Mutation analysis of the entire PKD1 gene: Genetic and diagnostic

American Journal of Human Genetics

Volumn 68, Issue 1, 2001, Pages 46-63

  Rossetti, Sandro ^a   Strmecki, Lana ^a   Gamble, Vicki ^b   Burton, Sarah ^c   Sneddon, Vicky ^a   Peral, Belén ^d   Roy, Sushmita ^e   Bakkaloglu, Aysin ^f   Komel, Radovan ^g   Winearls, Christopher G ^c   Harris, Peter C ^a  

^a MAYO CLINIC   (United States)

^b UNIVERSITY OF OXFORD   (United Kingdom)

^c OXFORD UNIVERSITY HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

^d INSTITUTO DE INVESTIGACIONES BIOMÉDICAS ALBERTO SOLS   (Spain)

^e UNIVERSITY COLLEGE LONDON   (United Kingdom)

^f HACETTEPE UNIVERSITY   (Turkey)

^g UNIVERSITY MEDICAL CENTRE LJUBLJANA   (Slovenia)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOSOMAL DOMINANT DISORDER; CALCULATION; CONTROLLED STUDY; DIAGNOSTIC VALUE; EXON; FRAMESHIFT MUTATION; GENE CONVERSION; GENE FREQUENCY; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC SCREENING; HUMAN; HUMAN CELL; KIDNEY POLYCYSTIC DISEASE; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS;

EID: 0035171856     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/316939     Document Type: Article

References (71)

1. DNA structural transitions within the PKD1 gene
2. Polycystin-L is a calcium-regulated cation channel permeable to calcium ions
3. The nature and mechanisms of human gene mutation
4. RNA surveillance. Unforeseen consequences for gene expression, inherited genetic disorders and cancer
5. Bilateral polycystic disease of the kidneys: A follow-up of two hundred and eighty-four patients and their families
6. Novel and recurrent mutations in the PKD1 (polycystic kidney disease) gene
7. Evidence for a third genetic locus for autosomal dominant polycystic kidney disease
8. Segregation analysis of autosomal dominant polycystic kidney disease
9. Locus assignment of human a globin mutations by selective amplification and direct sequencing
10. The polycystic kidney disease 1 gene encodes a 14 kb transcript and lies within a duplicated region on chromosome 16
11. Identification and localization of polycystin, the PKD1 gene product
12. Mutation rates in humans.II. Sporadic mutation-specific rates and rate of detrimental human mutations inferred from hemophilia B
13. Mutation rates in humans. I. Overall and sex-specific rates obtained from a population study of hemophilia B
14. The 1993-94 Généthon human genetic linkage map
15. Rapid genetic analysis of families with polycystic kidney disease by means of a microsatellite marker
16. Comparison of phenotypes of polycystic kidney disease types 1 and 2
17. Mutation screening of all 65 exons of the fibrillin-1 gene in 60 patients with Marfan syndrome: Report of 12 novel mutations
18. A perfect message: RNA surveillance and nonsense-mediated decay
19. Polycystin-1, the PKD1 gene product, is in a complex containing E-cadherin and the catenins
20. Identification of a human homologue of the sea urchin receptor for egg jelly: A polycystic kidney disease-like protein
21. The polycystic kidney disease 1 (PKD1) gene encodes a novel protein with multiple cell recognition domains
22. Polycystic kidney disease: The complete structure of the PKD1 gene and its protein
23. Polycystin 1 is required for the structural integrity of blood vessels
24. Spectrum of mutations in the COL4A5 collagen gene in X-linked A1port syndrome
25. The leucine-rich repeat: A versatile binding motif
26. Germinal and somatic mutations in the PKD2 gene of renal cysts in autosomal dominant polycystic kidney disease
27. Genetic evidence for a trans-heterozygous model for cystogenesis in autosomal dominant polycystic kidney disease
28. The human gene mutation database
29. Denaturing high performance liquid chromatography (DHPLC) used in the detection of germline and somatic mutations
30. Genome duplications and other features in 12 Mbp of DNA sequence from human chromosome 16p and 16q
31. Late onset of renal and hepatic cysts in Pkd1-targeted heterozygotes
32. Perinatal lethality with kidney and pancreas defects in mice with a targeted Pkd1 mutation
33. High mutation detection rate in the COL4A5 collagen gene in suspected Alport syndrome using PCR and direct DNA sequencing
34. PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein
35. The sea urchin sperm receptor for egg jelly is a modular protein with extensive homology to the human polycystic kidney disease protein, PKD1
36. Identification of prokaryotic and eukaryotic signal peptides and prediction of their cleavage sites
37. Polycystin-1 expression in PKD1, early onset PKD1 and TSC2/PKD1 cystic tissue: Implications for understanding cystogenesis
38. Somatic PKD2 mutations in individual kidney and liver cysts support a "two-hit" model of cystogenesis in type 2 autosomal dominant polycystic kidney disease
39. Splicing mutations of the polycystic kidney disease 1 (PKD1) gene induced by intronic deletion
40. Identification of mutations in the duplicated region of the polycystic kidney disease 1 (PKD1) gene by a novel approach
41. A stable, nonsense mutation associated with a case of infantile onset polycystic kidney disease 1 (PKD1)
42. Screening the 3′ region of the polycystic kidney disease 1 (PKD1) gene reveals six novel mutations
43. Evidence of linkage disequilibrium in the Spanish polycystic kidney disease 1 (PKD1) population
44. DGGE screening of PKD1 gene reveals novel mutations in a large cohort of 146 unrelated patients
45. Thirteen novel mutations of the replicated region of PKD1 in an Asian population
46. A latrophilin/CL-1-like GPS domain in polycystin-1
47. The molecular basis of focal cyst formation in human autosomal dominant polycystic kidney disease type 1
48. Evaluation of ultrasonographic diagnostic criteria for autosomal dominant polycystic kidney disease 1
49. A highly polymorphic DNA marker linked to adult polycystic kidney disease on chromosome 16
50. Mutation detection in the repeated part of the PKD1 gene
51. Protein truncation test (PTT) for rapid detection of translation-terminating mutations
52. Autosomal dominant polycystic kidney disease (ADPKD) in an Italian family carrying a novel nonsense mutation and two missense changes in exon 44 and 45 of the PKD1 gene
53. Introduction of a myc reporter tag to improve the quality of mutation detection using the protein truncation test
54. Comparative analysis of the polycystic kidney disease 1 (PKD1) gene reveals an integral membrane glycoprotein with multiple evolutionary conserved domains
55. On the distribution of frequencies of mutation to genes determining harmful traits in man
56. Identification of mutations in the repeated part of the autosomal dominant polycystic kidney disease type 1 gene, PKD1, by long-range PCR
57. Long RT-PCR amplification of the entire coding sequence of the polycystic kidney disease 1 (PKD1) gene
58. Recurrence of the PKD1 nonsense mutation Q4041X in Spanish, Italian and British families
59. A loss-of-function model for cystogenesis in human autosomal dominant polycystic kidney disease type 2
60. A 2.5kb polypyrimidine tract in PKD1 gene contains at least 23 H-DNA-forming sequences
61. A spectrum of mutations in the second gene for autosomal dominant polycystic kidney disease (PKD2)
62. Mutagenesis in mammalian cells induced by triple helix formation and transcription-coupled repair
63. Polycystin, the polycystic kidney disease 1 protein, is expressed by epithelial cells in fetal, adult and polycystic kidney
64. Gene conversion is a likely cause of mutation in PKD1
65. Mutations of PKD1 in ADPKD2 cysts suggest a pathogenic effect of transheterozygous mutations
66. Mutation detection of PKD1 identifies a novel mutation common to three families with aneurysms and/or very-early-onset disease
67. An unusual pattern of mutation in the duplicated portion of PKD1 is revealed by use of a novel strategy for mutation detection
68. Somatic mutation in individual liver cysts supports a two-hit model of cystogenesis in autosomal dominant polycystic kidney disease
69. The PKD1 gene product, "polycystin-1" is a tyrosine-phosphorylated protein that colocalizes with a2b1-integrin in focal clusters in adherent renal epithelia
70. Base composition-independent hybridization in tetramethylammonium chloride: A method for oligonucleotide screening of highly complex gene libraries