This large group of familial broncho-pulmonary disorders includes disturbances of cell metabolism and membrane function as well as dysfunctions of the muscular and nervous systems.
1. |
De Rose V et al. (2005) Fcgamma receptor IIA genotype and susceptibility to P. aeruginosa infection in patients with cystic fibrosis. |
3. |
Orita M et al. (1989) Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms. |
4. |
Fajac I et al. (2008) Could a defective epithelial sodium channel lead to bronchiectasis. |
5. |
None (1991) Hereditary disorders in Saguenay-Lac-St-Jean (Quebec, Canada). |
6. |
Savov A et al. (1995) Double mutant alleles: are they rare? |
7. |
Sharer N et al. (1998) Mutations of the cystic fibrosis gene in patients with chronic pancreatitis. |
8. |
Cohn JA et al. (1998) Relation between mutations of the cystic fibrosis gene and idiopathic pancreatitis. |
9. |
Chang MC et al. (2007) Spectrum of mutations and variants/haplotypes of CFTR and genotype-phenotype correlation in idiopathic chronic pancreatitis and controls in Chinese by complete analysis. |
10. |
Cheadle JP et al. (1992) A new missense mutation (R1283M) in exon 20 of the cystic fibrosis transmembrane conductance regulator gene. |
11. |
Férec C et al. (1992) Detection of over 98% cystic fibrosis mutations in a Celtic population. |
12. |
Rosenfeld MA et al. (1992) In vivo transfer of the human cystic fibrosis transmembrane conductance regulator gene to the airway epithelium. |
13. |
Cutting GR et al. (1992) Analysis of four diverse population groups indicates that a subset of cystic fibrosis mutations occur in common among Caucasians. |
15. |
Snouwaert JN et al. (1992) An animal model for cystic fibrosis made by gene targeting. |
16. |
Dorin JR et al. (1992) Cystic fibrosis in the mouse by targeted insertional mutagenesis. |
17. |
Abeliovich D et al. (1992) Screening for five mutations detects 97% of cystic fibrosis (CF) chromosomes and predicts a carrier frequency of 1:29 in the Jewish Ashkenazi population. |
18. |
Cheadle J et al. (1992) Mild pulmonary disease in a cystic fibrosis child homozygous for R553X. |
19. |
Laroche D et al. (1991) Abnormal frequency of delta F508 mutation in neonatal transitory hypertrypsinaemia. |
20. |
Rich DP et al. (1990) Expression of cystic fibrosis transmembrane conductance regulator corrects defective chloride channel regulation in cystic fibrosis airway epithelial cells. |
21. |
Devoto M et al. (1991) Screening for non-delta F508 mutations in five exons of the cystic fibrosis transmembrane conductance regulator (CFTR) gene in Italy. |
22. |
Marino CR et al. (1991) Localization of the cystic fibrosis transmembrane conductance regulator in pancreas. |
23. |
Dörk T et al. (1991) Cystic fibrosis with three mutations in the cystic fibrosis transmembrane conductance regulator gene. |
24. |
Nunes V et al. (1991) Analysis of 14 cystic fibrosis mutations in five south European populations. |
25. |
Dumur V et al. (1990) Abnormal distribution of cystic fibrosis delta F508 allele in adults with chronic bronchial hypersecretion. |
26. |
Curtis A et al. (1991) Association of less common cystic fibrosis mutations with a mild phenotype. |
27. |
None (1990) Gradient of distribution in Europe of the major CF mutation and of its associated haplotype. European Working Group on CF Genetics (EWGCFG). |
28. |
Klinger K et al. (1990) Cystic fibrosis mutations in the Hutterite Brethren. |
29. |
Kerem BS et al. (1989) DNA marker haplotype association with pancreatic sufficiency in cystic fibrosis. |
30. |
Kerem B et al. (1989) Identification of the cystic fibrosis gene: genetic analysis. |
31. |
Baylin SB et al. (1980) Age-related abnormalities of circulating polyamines and diamine oxidase activity in cystic fibrosis heterozygotes and homozygotes. |
32. |
Colledge WH et al. (1995) Generation and characterization of a delta F508 cystic fibrosis mouse model. |
33. |
Kerem E et al. (1995) Highly variable incidence of cystic fibrosis and different mutation distribution among different Jewish ethnic groups in Israel. |
34. |
Sheppard DN et al. (1993) Mutations in CFTR associated with mild-disease-form Cl- channels with altered pore properties. |
35. |
Yang Y et al. (1993) An approach for treating the hepatobiliary disease of cystic fibrosis by somatic gene transfer. |
36. |
Yang Y et al. (1993) Molecular basis of defective anion transport in L cells expressing recombinant forms of CFTR. |
37. |
None (1993) Correlation between genotype and phenotype in patients with cystic fibrosis. The Cystic Fibrosis Genotype-Phenotype Consortium. |
38. |
Johannesson M et al. (1997) Delayed puberty in girls with cystic fibrosis despite good clinical status. |
39. |
de Vries HG et al. (1997) Prevalence of delta F508 cystic fibrosis carriers in The Netherlands: logistic regression on sex, age, region of residence and number of offspring. |
40. |
None (1997) The diagnosis of cystic fibrosis. |
41. |
Pier GB et al. (1998) Salmonella typhi uses CFTR to enter intestinal epithelial cells. |
42. |
Dörk T et al. (1998) Evidence for a common ethnic origin of cystic fibrosis mutation 3120+1G-->A in diverse populations. |
43. |
Reddy MM et al. (1999) Activation of the epithelial Na+ channel (ENaC) requires CFTR Cl- channel function. |
44. |
Wang J et al. (2000) A novel mutation in the CFTR gene correlates with severe clinical phenotype in seven Hispanic patients. |
45. |
Kabra M et al. (2000) Is the spectrum of mutations in Indian patients with cystic fibrosis different? |
46. |
Kulczycki LL et al. (2003) A clinical perspective of cystic fibrosis and new genetic findings: relationship of CFTR mutations to genotype-phenotype manifestations. |
47. |
Egan ME et al. (2004) Curcumin, a major constituent of turmeric, corrects cystic fibrosis defects. |
48. |
van de Vosse E et al. (2005) Susceptibility to typhoid fever is associated with a polymorphism in the cystic fibrosis transmembrane conductance regulator (CFTR). |
49. |
Romey MC et al. (1999) First putative sequence alterations in the minimal CFTR promoter region. |
50. |
Kälin N et al. (1999) DeltaF508 CFTR protein expression in tissues from patients with cystic fibrosis. |
51. |
Chanson M et al. (1999) Defective regulation of gap junctional coupling in cystic fibrosis pancreatic duct cells. |
52. |
Haardt M et al. (1999) C-terminal truncations destabilize the cystic fibrosis transmembrane conductance regulator without impairing its biogenesis. A novel class of mutation. |
53. |
Chang XB et al. (1999) Removal of multiple arginine-framed trafficking signals overcomes misprocessing of delta F508 CFTR present in most patients with cystic fibrosis. |
54. |
Romey MC et al. () Complex allele [-102T>A+S549R(T>G)] is associated with milder forms of cystic fibrosis than allele S549R(T>G) alone. |
55. |
Romey MC et al. (2000) A naturally occurring sequence variation that creates a YY1 element is associated with increased cystic fibrosis transmembrane conductance regulator gene expression. |
56. |
Weixel KM et al. (2000) The carboxyl terminus of the cystic fibrosis transmembrane conductance regulator binds to AP-2 clathrin adaptors. |
57. |
Ellsworth RE et al. (2000) Comparative genomic sequence analysis of the human and mouse cystic fibrosis transmembrane conductance regulator genes. |
59. |
Dörk T et al. (2000) Characterization of a novel 21-kb deletion, CFTRdele2,3(21 kb), in the CFTR gene: a cystic fibrosis mutation of Slavic origin common in Central and East Europe. |
60. |
Gomez Lira M et al. (2000) High frequency of cystic fibrosis transmembrane regulator mutation L997F in patients with recurrent idiopathic pancreatitis and in newborns with hypertrypsinemia. |
61. |
Moyer BD et al. (2000) The PDZ-interacting domain of cystic fibrosis transmembrane conductance regulator is required for functional expression in the apical plasma membrane. |
62. |
Wang S et al. (2000) Accessory protein facilitated CFTR-CFTR interaction, a molecular mechanism to potentiate the chloride channel activity. |
63. |
Callen A et al. (2000) A simplified cyclic adenosine monophosphate-mediated sweat rate test for quantitative measure of cystic fibrosis transmembrane regulator (CFTR) function. |
64. |
Scotet V et al. (2001) Prevalence of CFTR mutations in hypertrypsinaemia detected through neonatal screening for cystic fibrosis. |
65. |
Choi JY et al. (2001) Aberrant CFTR-dependent HCO3- transport in mutations associated with cystic fibrosis. |
66. |
Buratti E et al. (2001) Nuclear factor TDP-43 and SR proteins promote in vitro and in vivo CFTR exon 9 skipping. |
67. |
Rowntree RK et al. (2001) An element in intron 1 of the CFTR gene augments intestinal expression in vivo. |
68. |
Bronsveld I et al. (2001) Chloride conductance and genetic background modulate the cystic fibrosis phenotype of Delta F508 homozygous twins and siblings. |
69. |
White SM et al. (2001) Cystic fibrosis: a further case of an asymptomatic compound heterozygote. |
70. |
Broackes-Carter FC et al. (2002) Temporal regulation of CFTR expression during ovine lung development: implications for CF gene therapy. |
71. |
Dickinson P et al. (2002) The severe G480C cystic fibrosis mutation, when replicated in the mouse, demonstrates mistrafficking, normal survival and organ-specific bioelectrics. |
72. |
Oceandy D et al. (2002) Gene complementation of airway epithelium in the cystic fibrosis mouse is necessary and sufficient to correct the pathogen clearance and inflammatory abnormalities. |
73. |
Bobadilla JL et al. (2002) Cystic fibrosis: a worldwide analysis of CFTR mutations--correlation with incidence data and application to screening. |
74. |
Hefferon TW et al. (2002) Atypical 5' splice sites cause CFTR exon 9 to be vulnerable to skipping. |
75. |
Eidelman O et al. (2002) Role for phospholipid interactions in the trafficking defect of Delta F508-CFTR. |
76. |
Mouchel N et al. (2003) Alternative 5' exons of the CFTR gene show developmental regulation. |
77. |
Pagani F et al. (2003) New type of disease causing mutations: the example of the composite exonic regulatory elements of splicing in CFTR exon 12. |
78. |
Sheth S et al. (2003) Increased prevalence of CFTR mutations and variants and decreased chloride secretion in primary sclerosing cholangitis. |
79. |
Reddy MM et al. (2003) Control of dynamic CFTR selectivity by glutamate and ATP in epithelial cells. |
81. |
Yang H et al. (2003) Nanomolar affinity small molecule correctors of defective Delta F508-CFTR chloride channel gating. |
82. |
Alper OM et al. (2003) 1154insTC is not a rare CFTR mutation. |
83. |
Wong LJ et al. (2003) Two novel null mutations in a Taiwanese cystic fibrosis patient and a survey of East Asian CFTR mutations. |
84. |
Jones CT et al. (1992) Three novel mutations in the cystic fibrosis gene detected by chemical cleavage: analysis of variant splicing and a nonsense mutation. |
85. |
Nunes V et al. (1992) Cystic fibrosis patients with mutation 1949del84 in exon 13 of the CFTR gene have a similar clinical severity as delta F508 homozygotes. |
86. |
Strong TV et al. (1992) Characterization of an intron 12 splice donor mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. |
88. |
Lee JH et al. (2003) A haplotype-based molecular analysis of CFTR mutations associated with respiratory and pancreatic diseases. |
89. |
Waterston R et al. (1992) A survey of expressed genes in Caenorhabditis elegans. |
90. |
McCombie WR et al. (1992) Caenorhabditis elegans expressed sequence tags identify gene families and potential disease gene homologues. |
91. |
Zeitlin PL et al. (1992) CFTR protein expression in primary and cultured epithelia. |
92. |
Shoshani T et al. (1992) Association of a nonsense mutation (W1282X), the most common mutation in the Ashkenazi Jewish cystic fibrosis patients in Israel, with presentation of severe disease. |
93. |
Casals T et al. (1992) Cystic fibrosis in the Basque country: high frequency of mutation delta F508 in patients of Basque origin. |
94. |
Ronchetto P et al. (1992) A nonsense mutation (R1158X) and a splicing mutation (3849 + 4A----G) in exon 19 of the cystic fibrosis transmembrane conductance regulator gene. |
95. |
Fonknechten N et al. (1992) CFTR illegitimate transcription in lymphoid cells: quantification and applications to the investigation of pathological transcripts. |
96. |
Granell R et al. (1992) Identification of a nonframeshift 84-bp deletion in exon 13 of the cystic fibrosis gene. |
97. |
Nunes V et al. (1992) A frameshift mutation (2869insG) in the second transmembrane domain of the CFTR gene: identification, regional distribution, and clinical presentation. |
98. |
Graham CA et al. (1992) Identification of a frameshift mutation (557 del T) in exon 4 of the CFTR gene. |
99. |
Dean M et al. (1992) A 22-bp deletion in the coding region of the cystic fibrosis gene. |
100. |
Kelley KA et al. (1992) Expression and chromosome localization of the murine cystic fibrosis transmembrane conductance regulator. |
101. |
Lerer I et al. (1992) Cystic fibrosis mutations delta F508 and G542X in Jewish patients. |
102. |
Claustres M et al. (1992) A new mutation (1078delT) in exon 7 of the CFTR gene in a southern French adult with cystic fibrosis. |
104. |
Ferrie RM et al. (1992) Development, multiplexing, and application of ARMS tests for common mutations in the CFTR gene. |
105. |
Denning GM et al. (1992) Processing of mutant cystic fibrosis transmembrane conductance regulator is temperature-sensitive. |
106. |
Osborne L et al. (1992) Incidence and expression of the N1303K mutation of the cystic fibrosis (CFTR) gene. |
107. |
Gasparini P et al. (1992) Nine cystic fibrosis patients homozygous for the CFTR nonsense mutation R1162X have mild or moderate lung disease. |
108. |
Grebe TA et al. (1992) Mutation analysis of the cystic fibrosis transmembrane regulator gene in Native American populations of the southwest. |
109. |
Siegel D et al. (1992) Localization of the cystic fibrosis transmembrane conductance regulator (Cftr) to mouse chromosome 6. |
110. |
Wang XF et al. (2003) Involvement of CFTR in uterine bicarbonate secretion and the fertilizing capacity of sperm. |
111. |
Wilschanski M et al. (2003) Gentamicin-induced correction of CFTR function in patients with cystic fibrosis and CFTR stop mutations. |
112. |
Mendes F et al. (2003) Unusually common cystic fibrosis mutation in Portugal encodes a misprocessed protein. |
113. |
Wang HY et al. (2004) Structural diversity and functional implications of the eukaryotic TDP gene family. |
114. |
Groman JD et al. (2004) Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign. |
115. |
Randak C et al. (2003) An intrinsic adenylate kinase activity regulates gating of the ABC transporter CFTR. |
116. |
Hefferon TW et al. (2004) A variable dinucleotide repeat in the CFTR gene contributes to phenotype diversity by forming RNA secondary structures that alter splicing. |
117. |
Fischer H et al. (2004) Vitamin C controls the cystic fibrosis transmembrane conductance regulator chloride channel. |
118. |
Audrézet MP et al. (2004) Genomic rearrangements in the CFTR gene: extensive allelic heterogeneity and diverse mutational mechanisms. |
119. |
Buratti E et al. (2004) Nuclear factor TDP-43 binds to the polymorphic TG repeats in CFTR intron 8 and causes skipping of exon 9: a functional link with disease penetrance. |
120. |
Rozen R et al. (1992) Cystic fibrosis mutations in French Canadians: three CFTR mutations are relatively frequent in a Quebec population with an elevated incidence of cystic fibrosis. |
121. |
Anguiano A et al. (1992) Congenital bilateral absence of the vas deferens. A primarily genital form of cystic fibrosis. |
122. |
Salvatore D et al. (2005) Isolated elevated sweat chloride concentrations in the presence of the rare mutation S1455X: an extremely mild form of CFTR dysfunction. |
123. |
Vergani P et al. (2005) CFTR channel opening by ATP-driven tight dimerization of its nucleotide-binding domains. |
124. |
Clain J et al. (2005) A neutral variant involved in a complex CFTR allele contributes to a severe cystic fibrosis phenotype. |
125. |
Clain J et al. (2005) Misprocessing of the CFTR protein leads to mild cystic fibrosis phenotype. |
126. |
Pagani F et al. (2005) Synonymous mutations in CFTR exon 12 affect splicing and are not neutral in evolution. |
128. |
Chen HJ et al. (2005) Cystic fibrosis with homozygous R553X mutation in a Taiwanese child. |
129. |
Wauters JG et al. (1991) Frequency of the phenylalanine deletion (delta F508) in the CF gene of Belgian cystic fibrosis patients. |
130. |
Jin R et al. (2006) The cystic fibrosis transmembrane conductance regulator (Cftr) modulates the timing of puberty in mice. |
131. |
Sun W et al. (2006) CFTR 5T variant has a low penetrance in females that is partially attributable to its haplotype. |
132. |
Bürger J et al. (1991) Genetic influences in the formation of nasal polyps. |
133. |
Bal J et al. (1991) A cystic fibrosis patient homozygous for the nonsense mutation R553X. |
134. |
Younger JM et al. (2006) Sequential quality-control checkpoints triage misfolded cystic fibrosis transmembrane conductance regulator. |
135. |
Di A et al. (2006) CFTR regulates phagosome acidification in macrophages and alters bactericidal activity. |
136. |
Cutting GR et al. (1990) A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein. |
137. |
Cheng SH et al. (1990) Defective intracellular transport and processing of CFTR is the molecular basis of most cystic fibrosis. |
138. |
Anand R et al. (1991) A yeast artificial chromosome contig encompassing the cystic fibrosis locus. |
139. |
Chu CS et al. (1991) Variable deletion of exon 9 coding sequences in cystic fibrosis transmembrane conductance regulator gene mRNA transcripts in normal bronchial epithelium. |
140. |
Zielenski J et al. (1991) Identification of mutations in exons 1 through 8 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. |
141. |
Ivaschenko TE et al. (1991) A deletion of two nucleotides in exon 10 of the CFTR gene in a Soviet family with cystic fibrosis causing early infant death. |
142. |
Wang X et al. (2006) Hsp90 cochaperone Aha1 downregulation rescues misfolding of CFTR in cystic fibrosis. |
143. |
Tata F et al. (1991) Cloning the mouse homolog of the human cystic fibrosis transmembrane conductance regulator gene. |
144. |
Gregory RJ et al. (1991) Maturation and function of cystic fibrosis transmembrane conductance regulator variants bearing mutations in putative nucleotide-binding domains 1 and 2. |
145. |
Trapnell BC et al. (1991) Expression of the cystic fibrosis transmembrane conductance regulator gene in the respiratory tract of normal individuals and individuals with cystic fibrosis. |
146. |
Morral N et al. (1991) CA/GT microsatellite alleles within the cystic fibrosis transmembrane conductance regulator (CFTR) gene are not generated by unequal crossingover. |
147. |
Zielenski J et al. (1991) A cluster of highly polymorphic dinucleotide repeats in intron 17b of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. |
149. |
White MB et al. (1991) A de novo cystic fibrosis mutation: CGA (Arg) to TGA (stop) at codon 851 of the CFTR gene. |
150. |
Thelin WR et al. (2007) Direct interaction with filamins modulates the stability and plasma membrane expression of CFTR. |
151. |
Aznarez I et al. (2007) Exon skipping through the creation of a putative exonic splicing silencer as a consequence of the cystic fibrosis mutation R553X. |
152. |
Daigneault J et al. (1991) Genetic epidemiology of cystic fibrosis in Saguenay-Lac-St-Jean (Quebec, Canada). |
153. |
Chalkley G et al. (1991) A cystic fibrosis patient who is homozygous for the G85E mutation has very mild disease. |
154. |
Chalkley G et al. (1991) Lymphocyte mRNA as a resource for detection of mutations and polymorphisms in the CF gene. |
155. |
Serohijos AW et al. (2008) Phenylalanine-508 mediates a cytoplasmic-membrane domain contact in the CFTR 3D structure crucial to assembly and channel function. |
156. |
Sangiuolo F et al. (1991) A serine-to-arginine (AGT-to-CGT) mutation in codon 549 of the CFTR gene in an Italian patient with severe cystic fibrosis. |
157. |
Strong TV et al. (1991) Cystic fibrosis gene mutation in two sisters with mild disease and normal sweat electrolyte levels. |
158. |
Kobayashi K et al. (1990) Benign missense variations in the cystic fibrosis gene. |
159. |
Thauvin-Robinet C et al. (2009) The very low penetrance of cystic fibrosis for the R117H mutation: a reappraisal for genetic counselling and newborn screening. |
161. |
Iannuzzi MC et al. (1991) Two frameshift mutations in the cystic fibrosis gene. |
162. |
Gille C et al. (1991) A pooling strategy for heterozygote screening of the delta F508 cystic fibrosis mutation. |
163. |
Osborne L et al. (1991) A mutation in the second nucleotide binding fold of the cystic fibrosis gene. |
164. |
Nelson PV et al. (1991) Identification of a cystic fibrosis mutation: deletion of isoleucine506. |
165. |
Gasparini P et al. (1991) The search for south European cystic fibrosis mutations: identification of two new mutations, four variants, and intronic sequences. |
166. |
Okiyoneda T et al. (2010) Peripheral protein quality control removes unfolded CFTR from the plasma membrane. |
167. |
Hutt D et al. (2010) Cell Biology. The proteome in balance. |
168. |
Cuppens H et al. (1990) A child, homozygous for a stop codon in exon 11, shows milder cystic fibrosis symptoms than her heterozygous nephew. |
169. |
Vidaud M et al. (1990) Three point mutations in the CFTR gene in French cystic fibrosis patients: identification by denaturing gradient gel electrophoresis. |
170. |
Guillermit H et al. (1990) A 3' splice site consensus sequence mutation in the cystic fibrosis gene. |
171. |
Green ED et al. (1990) Chromosomal region of the cystic fibrosis gene in yeast artificial chromosomes: a model for human genome mapping. |
172. |
Rozen R et al. (1990) Cystic fibrosis mutations in North American populations of French ancestry: analysis of Quebec French-Canadian and Louisiana Acadian families. |
173. |
Kerem E et al. (1990) The relation between genotype and phenotype in cystic fibrosis--analysis of the most common mutation (delta F508). |
174. |
Cutting GR et al. (1990) Two patients with cystic fibrosis, nonsense mutations in each cystic fibrosis gene, and mild pulmonary disease. |
175. |
Kerem BS et al. (1990) Identification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic fibrosis gene. |
176. |
Ballabio A et al. (1990) PCR test for cystic fibrosis deletion. |
177. |
Dean M et al. (1990) Multiple mutations in highly conserved residues are found in mildly affected cystic fibrosis patients. |
178. |
Latham T et al. (1990) Complex alleles of the acid beta-glucosidase gene in Gaucher disease. |
179. |
Riordan JR et al. (1989) Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. |
180. |
Chan AM et al. (1989) Molecular cloning and localization to chromosome 6 of mouse INT1L1 gene. |
181. |
Orita M et al. (1989) Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction. |
182. |
Rommens JM et al. (1989) Identification of the cystic fibrosis gene: chromosome walking and jumping. |
183. |
Vidaud M et al. (1989) A 5' splice-region G----C mutation in exon 1 of the human beta-globin gene inhibits pre-mRNA splicing: a mechanism for beta+-thalassemia. |
184. |
Burke JF et al. (1985) Suppression of a nonsense mutation in mammalian cells in vivo by the aminoglycoside antibiotics G-418 and paromomycin. |
185. |
Buchanan JH et al. (1987) Aminoglycoside antibiotic treatment of human fibroblasts: intracellular accumulation, molecular changes and the loss of ribosomal accuracy. |
186. |
Konstan MW et al. (1995) Effect of high-dose ibuprofen in patients with cystic fibrosis. |
187. |
Gasparini P et al. (1993) Screening of 62 mutations in a cohort of cystic fibrosis patients from north eastern Italy: their incidence and clinical features of defined genotypes. |
188. |
Sangiuolo F et al. (1993) Molecular characterization of a frameshift mutation in exon 19 of the CFTR gene. |
189. |
Kiesewetter S et al. (1993) A mutation in CFTR produces different phenotypes depending on chromosomal background. |
190. |
Schwartz M et al. (1994) 394delTT: a Nordic cystic fibrosis mutation. |
191. |
Grebe TA et al. (1994) Genetic analysis of Hispanic individuals with cystic fibrosis. |
192. |
Shoshani T et al. (1994) Similar levels of mRNA from the W1282X and the delta F508 cystic fibrosis alleles, in nasal epithelial cells. |
195. |
Pind S et al. (1994) Participation of the endoplasmic reticulum chaperone calnexin (p88, IP90) in the biogenesis of the cystic fibrosis transmembrane conductance regulator. |
196. |
Logan J et al. (1994) Cystic fibrosis transmembrane conductance regulator mutations that disrupt nucleotide binding. |
197. |
Greil I et al. () A new missense mutation G1249E in exon 20 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. |
198. |
Shoshani T et al. (1994) Two novel mutations in the CFTR gene: W1089X in exon 17B and 4010delTATT in exon 21. |
199. |
Ghanem N et al. (1994) Identification of eight mutations and three sequence variations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. |
200. |
Schaedel C et al. (1994) A novel cystic fibrosis mutation, Y109C, in the first transmembrane domain of CFTR. |
202. |
Russo MP et al. (1995) Analysis of linkage disequilibrium between different cystic fibrosis mutations and three intragenic microsatellites in the Italian population. |
203. |
Schwiebert EM et al. (1995) CFTR regulates outwardly rectifying chloride channels through an autocrine mechanism involving ATP. |
204. |
Leoni GB et al. (1995) A specific cystic fibrosis mutation (T3381) associated with the phenotype of isolated hypotonic dehydration. |
205. |
Rozen R et al. (1995) L206W mutation of the cystic fibrosis gene, relatively frequent in French Canadians, is associated with atypical presentations of cystic fibrosis. |
206. |
Jensen TJ et al. (1995) Multiple proteolytic systems, including the proteasome, contribute to CFTR processing. |
207. |
van Doorninck JH et al. (1995) A mouse model for the cystic fibrosis delta F508 mutation. |
208. |
Zeiher BG et al. (1995) A mouse model for the delta F508 allele of cystic fibrosis. |
209. |
Zielenski J et al. (1995) CFTR gene variant for patients with congenital absence of vas deferens. |
210. |
Varon R et al. (1995) Recurrent nasal polyps as a monosymptomatic form of cystic fibrosis associated with a novel in-frame deletion (591del18) in the CFTR gene. |
211. |
Shoshani T et al. (1993) A new mutation in the CFTR gene, composed of two adjacent DNA alterations, is a common cause of cystic fibrosis among Georgian Jews. |
212. |
Guillermit H et al. (1993) A novel mutation in exon 3 of the CFTR gene. |
213. |
Audrézet MP et al. (1993) Identification of 12 novel mutations in the CFTR gene. |
214. |
Nunes V et al. (1993) A new missense mutation (E92K) in the first transmembrane domain of the CFTR gene causes a benign cystic fibrosis phenotype. |
215. |
Chu CS et al. (1993) Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA. |
216. |
Smit LS et al. (1993) An African-American cystic fibrosis patient homozygous for a novel frameshift mutation associated with reduced CFTR mRNA levels. |
217. |
Welsh MJ et al. (1993) Molecular mechanisms of CFTR chloride channel dysfunction in cystic fibrosis. |
218. |
Claustres M et al. (1993) Analysis of the 27 exons and flanking regions of the cystic fibrosis gene: 40 different mutations account for 91.2% of the mutant alleles in southern France. |
219. |
Bienvenu T et al. (1993) Male infertility as the only presenting sign of cystic fibrosis when homozygous for the mild mutation R117H. |
220. |
Yang Y et al. (1993) The common variant of cystic fibrosis transmembrane conductance regulator is recognized by hsp70 and degraded in a pre-Golgi nonlysosomal compartment. |
221. |
Mashal RD et al. (1995) Detection of mutations by cleavage of DNA heteroduplexes with bacteriophage resolvases. |
222. |
Chillón M et al. (1995) Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens. |
223. |
Smit LS et al. (1995) Missense mutation (G480C) in the CFTR gene associated with protein mislocalization but normal chloride channel activity. |
224. |
Youil R et al. (1995) Screening for mutations by enzyme mismatch cleavage with T4 endonuclease VII. |
225. |
Lee YM et al. (1995) Primary sclerosing cholangitis. |
226. |
Chillón M et al. (1994) A cystic fibrosis patient homozygous for the new frameshift mutation 936delTA: description and clinical data. |
227. |
Orozco L et al. (1994) Identification of the I507 deletion by site-directed mutagenesis. |
228. |
Dorval I et al. (1993) Analysis of 160 CF chromosomes: detection of a novel mutation in exon 20. |
229. |
Augarten A et al. (1993) Mild cystic fibrosis and normal or borderline sweat test in patients with the 3849 + 10 kb C-->T mutation. |
230. |
Romey MC et al. (1993) Rapid detection of single nucleotide deletions: application to the beta 6 (-A) mutation of the beta-globin gene and to cystic fibrosis. |
231. |
Varon R et al. (1995) Pancreatic insufficiency and pulmonary disease in German and Slavic cystic fibrosis patients with the R347P mutation. |
232. |
Costes B et al. (1995) Frequent occurrence of the CFTR intron 8 (TG)n 5T allele in men with congenital bilateral absence of the vas deferens. |
233. |
Dumur V et al. (1996) Congenital bilateral absence of the vas deferens (CBAVD) and cystic fibrosis transmembrane regulator (CFTR): correlation between genotype and phenotype. |
234. |
Sato S et al. (1996) Glycerol reverses the misfolding phenotype of the most common cystic fibrosis mutation. |
235. |
Howard M et al. (1996) Aminoglycoside antibiotics restore CFTR function by overcoming premature stop mutations. |
236. |
Delaney SJ et al. (1996) Cystic fibrosis mice carrying the missense mutation G551D replicate human genotype-phenotype correlations. |
237. |
Pignatti PF et al. (1996) CFTR gene variant IVS8-5T in disseminated bronchiectasis. |
238. |
French PJ et al. (1996) A delta F508 mutation in mouse cystic fibrosis transmembrane conductance regulator results in a temperature-sensitive processing defect in vivo. |
239. |
Teng H et al. (1997) Increased proportion of exon 9 alternatively spliced CFTR transcripts in vas deferens compared with nasal epithelial cells. |
240. |
Antiñolo G et al. (1997) Genotype-phenotype relationship in 12 patients carrying cystic fibrosis mutation R334W. |
241. |
Castaldo G et al. (1997) Severe liver impairment in a cystic fibrosis-affected child homozygous for the G542X mutation. |
242. |
Loirat F et al. (1997) G542X as a probable Phoenician cystic fibrosis mutation. |
243. |
Brown CR et al. (1996) Chemical chaperones correct the mutant phenotype of the delta F508 cystic fibrosis transmembrane conductance regulator protein. |
245. |
Girodon E et al. () CFTR gene mutations in adults with disseminated bronchiectasis. |
246. |
Bedwell DM et al. (1997) Suppression of a CFTR premature stop mutation in a bronchial epithelial cell line. |
248. |
Casals T et al. (1997) High heterogeneity for cystic fibrosis in Spanish families: 75 mutations account for 90% of chromosomes. |
249. |
Kocher O et al. (1998) Identification and partial characterization of PDZK1: a novel protein containing PDZ interaction domains. |
250. |
Mickle JE et al. (1998) A mutation in the cystic fibrosis transmembrane conductance regulator gene associated with elevated sweat chloride concentrations in the absence of cystic fibrosis. |
251. |
Zhang F et al. (1998) Limited proteolysis as a probe for arrested conformational maturation of delta F508 CFTR. |
252. |
Sato S et al. (1998) Cotranslational ubiquitination of cystic fibrosis transmembrane conductance regulator in vitro. |
253. |
de Meeus A et al. (1998) Linkage disequilibrium between the M470V variant and the IVS8 polyT alleles of the CFTR gene in CBAVD. |
254. |
Devor DC et al. (1998) Ibuprofen inhibits cystic fibrosis transmembrane conductance regulator-mediated Cl- secretion. |
255. |
Jiang Q et al. (1998) Cellular heterogeneity of CFTR expression and function in the lung: implications for gene therapy of cystic fibrosis. |
256. |
Wei L et al. (1998) Phosphorylation site independent single R-domain mutations affect CFTR channel activity. |
257. |
Ramjeesingh M et al. (1999) Walker mutations reveal loose relationship between catalytic and channel-gating activities of purified CFTR (cystic fibrosis transmembrane conductance regulator). |
258. |
OMIM.ORG article Omim 602421 |