Literature DB >> 9345111

"Mistakes happen": somatic mutation and disease.

F Qian1, G G Germino.   

Abstract

Mesh：

Year:  1997        PMID： 9345111      PMCID： PMC1716042          DOI： 10.1086/301618

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  26 in total

1.  Multilocus polycystic disease.

Authors:  S T Reeders
Journal:  Nat Genet       Date:  1992-07       Impact factor: 38.330

2.  Ras1 and a putative guanine nucleotide exchange factor perform crucial steps in signaling by the sevenless protein tyrosine kinase.

Authors:  M A Simon; D D Bowtell; G S Dodson; T R Laverty; G M Rubin
Journal:  Cell       Date:  1991-11-15       Impact factor: 41.582

3.  Two-hit model for sporadic congenital anomalies in mice with the disorganization mutation.

Authors:  J L Crosby; D S Varnum; J H Nadeau
Journal:  Am J Hum Genet       Date:  1993-05       Impact factor: 11.025

Review 4.  Autosomal dominant polycystic kidney disease.

Authors:  P A Gabow
Journal:  N Engl J Med       Date:  1993-07-29       Impact factor: 91.245

5.  Human haploinsufficiency--one for sorrow, two for joy.

Authors:  E Fisher; P Scambler
Journal:  Nat Genet       Date:  1994-05       Impact factor: 38.330

6.  Mutations of the KIT (mast/stem cell growth factor receptor) proto-oncogene account for a continuous range of phenotypes in human piebaldism.

Authors:  R A Spritz; S A Holmes; R Ramesar; J Greenberg; D Curtis; P Beighton
Journal:  Am J Hum Genet       Date:  1992-11       Impact factor: 11.025

7.  Activating mutations of the stimulatory G protein in the McCune-Albright syndrome.

Authors:  L S Weinstein; A Shenker; P V Gejman; M J Merino; E Friedman; A M Spiegel
Journal:  N Engl J Med       Date:  1991-12-12       Impact factor: 91.245

8.  Mutation and cancer: statistical study of retinoblastoma.

Authors:  A G Knudson
Journal:  Proc Natl Acad Sci U S A       Date:  1971-04       Impact factor: 11.205

9.  Analysis of the genomic sequence for the autosomal dominant polycystic kidney disease (PKD1) gene predicts the presence of a leucine-rich repeat. The American PKD1 Consortium (APKD1 Consortium).

Authors:  T C Burn; T D Connors; W R Dackowski; L R Petry; T J Van Raay; J M Millholland; M Venet; G Miller; R M Hakim; G M Landes
Journal:  Hum Mol Genet       Date:  1995-04       Impact factor: 6.150

10.  Somatic mutations and cellular selection in paroxysmal nocturnal haemoglobinuria.

Authors:  M Bessler; P Mason; P Hillmen; L Luzzatto
Journal:  Lancet       Date:  1994-04-16       Impact factor: 79.321
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  15 in total

Review 1.  Polycystic kidney disease: In danger of being X-rated?

Authors:  J J Grantham; J P Calvet
Journal:  Proc Natl Acad Sci U S A       Date:  2001-01-30       Impact factor: 11.205

2.  Anecdotal, historical and critical commentaries on genetics. Rudolph Virchow and the genetic basis of somatic ecology.

Authors:  R P Wagner
Journal:  Genetics       Date:  1999-03       Impact factor: 4.562

3.  Loss of heterozygosity or: how I learned to stop worrying and love mitotic recombination.

Authors:  J A Tischfield
Journal:  Am J Hum Genet       Date:  1997-11       Impact factor: 11.025

Review 4.  Causes, effects, and constraints in the genetics of human longevity.

Authors:  F Schächter
Journal:  Am J Hum Genet       Date:  1998-05       Impact factor: 11.025

Review 5.  Molecular advances in autosomal dominant polycystic kidney disease.

Authors:  Anna Rachel Gallagher; Gregory G Germino; Stefan Somlo
Journal:  Adv Chronic Kidney Dis       Date:  2010-03       Impact factor: 3.620

6.  Mitotic recombination produces the majority of recessive fibroblast variants in heterozygous mice.

Authors:  C Shao; L Deng; O Henegariu; L Liang; N Raikwar; A Sahota; P J Stambrook; J A Tischfield
Journal:  Proc Natl Acad Sci U S A       Date:  1999-08-03       Impact factor: 11.205

7.  Interstitial uniparental isodisomy at clustered breakpoint intervals is a frequent mechanism of NF1 inactivation in myeloid malignancies.

Authors:  Karen Stephens; Molly Weaver; Kathleen A Leppig; Kyoko Maruyama; Peter D Emanuel; Michelle M Le Beau; Kevin M Shannon
Journal:  Blood       Date:  2006-05-11       Impact factor: 22.113

8.  Somatic second-hit mutations leads to polycystic liver diseases.

Authors:  Jesús M Banales; Patricia Munoz-Garrido; Luis Bujanda
Journal:  World J Gastroenterol       Date:  2013-01-07       Impact factor: 5.742

9.  Loss of polycystin-1 causes centrosome amplification and genomic instability.

Authors:  Lorenzo Battini; Salvador Macip; Elena Fedorova; Steven Dikman; Stefan Somlo; Cristina Montagna; G Luca Gusella
Journal:  Hum Mol Genet       Date:  2008-06-19       Impact factor: 6.150

10.  Retinoic acid-dependent activation of the polycystic kidney disease-1 (PKD1) promoter.

Authors:  M Rafiq Islam; Sanjeev Puri; Marianna Rodova; Brenda S Magenheimer; Robin L Maser; James P Calvet
Journal:  Am J Physiol Renal Physiol       Date:  2008-10-15
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