Mutation detection in the repeated part of the PKD1 gene.

PubWeight™: 0.84‹?›

🔗 View Article (PMC 1716049)

Published in Am J Hum Genet on November 01, 1997

Authors

J H Roelfsema1, L Spruit, J J Saris, P Chang, Y Pirson, G J van Ommen, D J Peters, M H Breuning

Author Affiliations

1: Department of Human Genetics, Sylvius Laboratory, Leiden University, Leiden, The Netherlands.

Articles cited by this

Compilation and analysis of sequences upstream from the translational start site in eukaryotic mRNAs. Nucleic Acids Res (1984) 39.52

A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature (1996) 27.61

Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms. Proc Natl Acad Sci U S A (1989) 18.26

The 1993-94 Généthon human genetic linkage map. Nat Genet (1994) 17.64

A second-generation linkage map of the human genome. Nature (1992) 16.32

Detection and localization of single base changes by denaturing gradient gel electrophoresis. Methods Enzymol (1987) 10.90

PCR amplification of up to 35-kb DNA with high fidelity and high yield from lambda bacteriophage templates. Proc Natl Acad Sci U S A (1994) 9.84

PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein. Science (1996) 6.56

Reactivity of cytosine and thymine in single-base-pair mismatches with hydroxylamine and osmium tetroxide and its application to the study of mutations. Proc Natl Acad Sci U S A (1988) 6.46

The polycystic kidney disease 1 (PKD1) gene encodes a novel protein with multiple cell recognition domains. Nat Genet (1995) 4.99

The molecular basis of focal cyst formation in human autosomal dominant polycystic kidney disease type I. Cell (1996) 3.49

Bilateral polycystic disease of the kidneys; a follow-up of two hundred and eighty-four patients and their families. Acta Med Scand Suppl (1957) 2.86

Deletion of the TSC2 and PKD1 genes associated with severe infantile polycystic kidney disease--a contiguous gene syndrome. Nat Genet (1994) 2.35

Intracranial aneurysms in autosomal dominant polycystic kidney disease. N Engl J Med (1992) 2.34

Detecting single base substitutions as heteroduplex polymorphisms. Genomics (1992) 2.26

Genetic heterogeneity of polycystic kidney disease in Europe. Contrib Nephrol (1992) 2.14

Protein truncation test (PTT) for rapid detection of translation-terminating mutations. Hum Mol Genet (1993) 2.08

Map of 16 polymorphic loci on the short arm of chromosome 16 close to the polycystic kidney disease gene (PKD1). J Med Genet (1990) 1.83

The sea urchin sperm receptor for egg jelly is a modular protein with extensive homology to the human polycystic kidney disease protein, PKD1. J Cell Biol (1996) 1.61

Screening the 3' region of the polycystic kidney disease 1 (PKD1) gene reveals six novel mutations. Am J Hum Genet (1996) 1.47

A stable, nonsense mutation associated with a case of infantile onset polycystic kidney disease 1 (PKD1). Hum Mol Genet (1996) 1.45

Multilocus polycystic disease. Nat Genet (1992) 1.42

Liver cysts in patients with autosomal dominant polycystic kidney disease. Am J Med (1980) 1.41

Echocardiographic findings in autosomal dominant polycystic kidney disease. N Engl J Med (1988) 1.40

Splicing mutations of the polycystic kidney disease 1 (PKD1) gene induced by intronic deletion. Hum Mol Genet (1995) 1.39

Risk factors for the development of hepatic cysts in autosomal dominant polycystic kidney disease. Hepatology (1990) 1.36

Characteristic mRNA abnormality found in half the patients with severe haemophilia A is due to large DNA inversions. Hum Mol Genet (1993) 1.34

Evidence of linkage disequilibrium in the Spanish polycystic kidney disease I population. Am J Hum Genet (1994) 1.28

Polycystic kidney disease: prospective analysis of nonazotemic patients and family members. Ann Intern Med (1984) 1.24

Identification of mutations in the duplicated region of the polycystic kidney disease 1 gene (PKD1) by a novel approach. Am J Hum Genet (1997) 1.21

A novel nonsense mutation in the PKD1 gene (C3817T) is associated with autosomal dominant polycystic kidney disease (ADPKD) in a large three-generation Italian family. Hum Mol Genet (1995) 1.21

Diverticular disease in patients with chronic renal failure due to polycystic kidney disease. Ann Intern Med (1980) 1.17

Cardiovascular abnormalities associated with adult polycystic kidney disease. Ann Intern Med (1984) 1.16

Childhood onset autosomal dominant polycystic kidney disease in sibs: clinical picture and recurrence risk. German Working Group on Paediatric Nephrology (Arbeitsgemeinschaft für Pädiatrische Nephrologie. J Med Genet (1993) 1.13

The gene for autosomal dominant polycystic kidney disease lies in a 750-kb CpG-rich region. Genomics (1992) 1.12

Linkage disequilibrium in the region of the autosomal dominant polycystic kidney disease gene (PKD1). Am J Hum Genet (1994) 1.11

Autosomal dominant polycystic kidney disease (ADPKD) in an Italian family carrying a novel nonsense mutation and two missense changes in exons 44 and 45 of the PKD1 Gene. Am J Med Genet (1996) 0.96

Renal cysts in premature children: occurrence in a family with polycystic kidney disease. Arch Pathol Lab Med (1978) 0.86

Autosomal dominant polycystic kidney disease with liver and pancreatic involvement in early childhood. Am J Kidney Dis (1989) 0.84

Detection of a novel nonsense mutation and an intragenic polymorphism in the PKD1 gene of a Cypriot family with autosomal dominant polycystic kidney disease. Hum Genet (1996) 0.81

Detection of translation terminating mutations in the PKD1 gene. Nephrol Dial Transplant (1996) 0.80

The long walk toward the PKD1 gene. The European PKD1 Consortium. Adv Nephrol Necker Hosp (1996) 0.78

Dinucleotide repeat polymorphism at the human hemoglobin alpha-1 pseudo-gene (HBAP1). Nucleic Acids Res (1992) 0.78

Articles by these authors

A highly polymorphic DNA marker linked to adult polycystic kidney disease on chromosome 16. Nature (1985) 7.34

Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP. Nature (1995) 7.11

PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein. Science (1996) 6.56

Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4. Cell (1996) 5.99

The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion. Am J Hum Genet (1989) 5.09

Oceanic forcing of Sahel rainfall on interannual to interdecadal time scales. Science (2003) 5.06

Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome. Nat Genet (1997) 4.95

FSHD associated DNA rearrangements are due to deletions of integral copies of a 3.2 kb tandemly repeated unit. Hum Mol Genet (1993) 4.21

Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy. Nature (1986) 4.13

Genetic studies into inherited and sporadic hemolytic uremic syndrome. Kidney Int (1998) 4.03

Minor Xp21 chromosome deletion in a male associated with expression of Duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa, and McLeod syndrome. Am J Hum Genet (1985) 3.83

Topography of the Duchenne muscular dystrophy (DMD) gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications. Am J Hum Genet (1989) 3.81

Randomized, comparative study of interferon beta-1a treatment regimens in MS: The EVIDENCE Trial. Neurology (2002) 3.73

BRCA1 genomic deletions are major founder mutations in Dutch breast cancer patients. Nat Genet (1997) 3.68

Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant. J Med Genet (2008) 3.35

Requirements for both Rac1 and Cdc42 in membrane ruffling and phagocytosis in leukocytes. J Exp Med (1997) 3.32

Isolation of probes detecting restriction fragment length polymorphisms from X chromosome-specific libraries: potential use for diagnosis of Duchenne muscular dystrophy. Hum Genet (1985) 3.08

WHSC1, a 90 kb SET domain-containing gene, expressed in early development and homologous to a Drosophila dysmorphy gene maps in the Wolf-Hirschhorn syndrome critical region and is fused to IgH in t(4;14) multiple myeloma. Hum Mol Genet (1998) 2.77

Rapid nonradioactive detection of the major cystic fibrosis mutation. Am J Hum Genet (1990) 2.72

X-linked Alport syndrome: natural history in 195 families and genotype- phenotype correlations in males. J Am Soc Nephrol (2000) 2.71

Extending the phenotype of recurrent rearrangements of 16p11.2: deletions in mentally retarded patients without autism and in normal individuals. Eur J Med Genet (2009) 2.65

Conjunction dysfunction: CBP/p300 in human disease. Trends Genet (1998) 2.64

Rapid subchromosomal localization of cosmids by nonradioactive in situ hybridization. Cytogenet Cell Genet (1990) 2.60

Axillary breast tissue: clinical presentation and surgical treatment. Ann Plast Surg (1995) 2.46

Direct detection of more than 50% of the Duchenne muscular dystrophy mutations by field inversion gels. Nature (1987) 2.44

Quantification of flow through an interatrial communication. Application to the partial Fontan procedure. J Thorac Cardiovasc Surg (1992) 2.39

Epidermal growth factor receptor activation of calpain is required for fibroblast motility and occurs via an ERK/MAP kinase signaling pathway. J Biol Chem (2000) 2.37

Randomized, prospective trial of pressure-limited versus volume-controlled ventilation in severe respiratory failure. Crit Care Med (1994) 2.35

Gallbladder contractility in patients with spinal cord injuries: a sonographic investigation. AJR Am J Roentgenol (1990) 2.24

The PWWP domain: a potential protein-protein interaction domain in nuclear proteins influencing differentiation? FEBS Lett (2000) 2.24

The X chromosome shows less genetic variation at restriction sites than the autosomes. Am J Hum Genet (1986) 2.22

Tyrosine phosphorylation of the gamma subunit of Fc gamma receptors, p72syk, and paxillin during Fc receptor-mediated phagocytosis in macrophages. J Biol Chem (1994) 2.17

A physical map of 4 million bp around the Duchenne muscular dystrophy gene on the human X-chromosome. Cell (1986) 2.12

Identification of mutations in the alpha 3(IV) and alpha 4(IV) collagen genes in autosomal recessive Alport syndrome. Nat Genet (1994) 2.12

Germinal mosaicism increases the recurrence risk for 'new' Duchenne muscular dystrophy mutations. J Med Genet (1989) 2.11

Protein truncation test (PTT) for rapid detection of translation-terminating mutations. Hum Mol Genet (1993) 2.08

A 10-megabase physical map of human Xp21, including the Duchenne muscular dystrophy gene. Genomics (1988) 2.04

Chromosome 4 localization of a second gene for autosomal dominant polycystic kidney disease. Nat Genet (1993) 2.01

Two genetic markers closely linked to adult polycystic kidney disease on chromosome 16. Br Med J (Clin Res Ed) (1986) 1.93

Phase I study in advanced cancer patients of a diversified prime-and-boost vaccination protocol using recombinant vaccinia virus and recombinant nonreplicating avipox virus to elicit anti-carcinoembryonic antigen immune responses. J Clin Oncol (2000) 1.92

Tyrosine phosphorylation is required for Fc receptor-mediated phagocytosis in mouse macrophages. J Exp Med (1993) 1.91

Unusual scarcity of restriction site polymorphism in the human thyroglobulin gene. A linkage study suggesting autosomal dominance of a defective thyroglobulin allele. Hum Genet (1984) 1.90

The outer membrane, not a coat of host proteins, limits antigenicity of virulent Treponema pallidum. Infect Immun (1992) 1.86

Map of 16 polymorphic loci on the short arm of chromosome 16 close to the polycystic kidney disease gene (PKD1). J Med Genet (1990) 1.83

A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis. Nat Genet (2001) 1.83

The human thyroglobulin gene: a polymorphic marker localized distal to C-MYC on chromosome 8 band q24. Hum Genet (1985) 1.82

A gene subject to genomic imprinting and responsible for hereditary paragangliomas maps to chromosome 11q23-qter. Hum Mol Genet (1992) 1.80

Somatic APC mosaicism: an underestimated cause of polyposis coli. Gut (2007) 1.79

Efficient isolation of X chromosome-specific single-copy probes from a cosmid library of a human X/hamster hybrid-cell line: mapping of new probes close to the locus for X-linked mental retardation. Am J Hum Genet (1987) 1.77

Human alpha-globin maps to pter-p13.3 in chromosome 16 distal to PGP. Hum Genet (1987) 1.76

Antisense-induced exon skipping restores dystrophin expression in DMD patient derived muscle cells. Hum Mol Genet (2001) 1.76

Spectrum of mutations in the Batten disease gene, CLN3. Am J Hum Genet (1997) 1.73

Lymphoma-associated translocation t(14;18) in blood B cells of normal individuals. Blood (1995) 1.71

Characterization of the gene encoding human sarcolipin (SLN), a proteolipid associated with SERCA1: absence of structural mutations in five patients with Brody disease. Genomics (1997) 1.70

Mapping the short arm of human chromosome 16. Genomics (1989) 1.69

EGF receptor regulation of cell motility: EGF induces disassembly of focal adhesions independently of the motility-associated PLCgamma signaling pathway. J Cell Sci (1998) 1.68

Transverse-momentum and pseudorapidity distributions of charged hadrons in pp collisions at square root of s = 7 TeV. Phys Rev Lett (2010) 1.67

Identification of COL4A5 defects in Alport's syndrome by immunohistochemistry of skin. Kidney Int (1999) 1.61

Characterization and localization of the Huntington disease gene product. Hum Mol Genet (1993) 1.60

Activation of the c-myc oncogene in a precursor-B-cell blast crisis of follicular lymphoma, presenting as composite lymphoma. N Engl J Med (1988) 1.59

Duplications in the DMD gene. Hum Mutat (2006) 1.58

Study of the mass and spin-parity of the Higgs boson candidate via its decays to Z boson pairs. Phys Rev Lett (2013) 1.56

Bcl-2/JH rearrangements in benign lymphoid tissues with follicular hyperplasia. Oncogene (1991) 1.56

Coronary sinus ostial occlusion during retrograde delivery of cardioplegic solution significantly improves cardioplegic distribution and efficacy. J Thorac Cardiovasc Surg (1995) 1.55

Targeted disruption of the Cln3 gene provides a mouse model for Batten disease. The Batten Mouse Model Consortium [corrected]. Neurobiol Dis (1999) 1.54

Atypical HNPCC owing to MSH6 germline mutations: analysis of a large Dutch pedigree. J Med Genet (2001) 1.51

Duration of illness in Huntington's disease is not related to age at onset. J Neurol Neurosurg Psychiatry (1993) 1.51

Safe preservation of human renal cadaver transplants by Euro-Collins solution up to 50 hours. Transplant Proc (1981) 1.50

A targeted mouse Brca1 mutation removing the last BRCT repeat results in apoptosis and embryonic lethality at the headfold stage. Oncogene (2001) 1.50

Characteristics of pronuclear migration in Beroe ovata. Cell Motil Cytoskeleton (1994) 1.48

Difference in direct charge-parity violation between charged and neutral B meson decays. Nature (2008) 1.46

Chromosomal localization of a unique gene by non-autoradiographic in situ hybridization. Nature (1985) 1.46

Rapid genetic analysis of families with polycystic kidney disease 1 by means of a microsatellite marker. Lancet (1991) 1.44

Variation, transcription and circular RNAs of the mitochondrial gene for subunit I of cytochrome c oxidase. J Mol Biol (1983) 1.43

[From gene to disease; from hemoglobin genes to thalassemia and sickle cell anemia]. Ned Tijdschr Geneeskd (2000) 1.43

Normocalcemic blood or crystalloid cardioplegia provides better neonatal myocardial protection than does low-calcium cardioplegia. J Thorac Cardiovasc Surg (1993) 1.42

A technique for laparoscopic completion of vaginal hysterectomy. Obstet Gynecol (1996) 1.41

Mutant huntingtin expression in clonal striatal cells: dissociation of inclusion formation and neuronal survival by caspase inhibition. J Neurosci (1999) 1.40

Mutations in the gene-encoding SERCA1, the fast-twitch skeletal muscle sarcoplasmic reticulum Ca2+ ATPase, are associated with Brody disease. Nat Genet (1996) 1.40

Polymorphic reticulosis: a malignant lymphoma of B-cell lineage. Laryngoscope (1989) 1.39

The heterotopic right heart assist transplantation. J Heart Transplant (1988) 1.39

Multiplicity in polyp count and extracolonic manifestations in 40 Dutch patients with MYH associated polyposis coli (MAP). J Med Genet (2005) 1.38

Development of additional RFLP probes near the locus for Duchenne muscular dystrophy by cosmid cloning of the DXS84 (754) locus. Hum Genet (1986) 1.38

No association between Alport's syndrome and antithyroid antibodies. Nephrol Dial Transplant (1992) 1.38

Serendipity in diagnostic imaging: magnetic resonance imaging of the breast. J Natl Cancer Inst (1998) 1.38

Hereditary leiomyomatosis and renal cell cancer in families referred for fumarate hydratase germline mutation analysis. Clin Genet (2011) 1.38

De novo facioscapulohumeral muscular dystrophy: frequent somatic mosaicism, sex-dependent phenotype, and the role of mitotic transchromosomal repeat interaction between chromosomes 4 and 10. Am J Hum Genet (2000) 1.37

Improved early diagnosis of adult polycystic kidney disease with flanking DNA markers. Lancet (1987) 1.36

Syk tyrosine kinase is required for immunoreceptor tyrosine activation motif-dependent actin assembly. J Biol Chem (1996) 1.36

Present experiences in a series of 26 ABO-incompatible living donor renal allografts. Transplant Proc (1987) 1.35

Pregnancy outcomes during treatment with interferon beta-1a in patients with multiple sclerosis. Neurology (2005) 1.34

Nearly all hereditary paragangliomas in the Netherlands are caused by two founder mutations in the SDHD gene. Genes Chromosomes Cancer (2001) 1.32