Literature DB >> 21565294

Succinate dehydrogenase gene variants and their role in Cowden syndrome.

Jean-Pierre Bayley.   

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Year:  2011        PMID： 21565294      PMCID： PMC3146717          DOI： 10.1016/j.ajhg.2010.12.016

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


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  6 in total

1.  Prediction of deleterious human alleles.

Authors:  S Sunyaev; V Ramensky; I Koch; W Lathe; A S Kondrashov; P Bork
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2.  SIFT: Predicting amino acid changes that affect protein function.

Authors:  Pauline C Ng; Steven Henikoff
Journal:  Nucleic Acids Res       Date:  2003-07-01       Impact factor: 16.971

3.  Global analysis of the mitochondrial N-proteome identifies a processing peptidase critical for protein stability.

Authors:  F-Nora Vögtle; Stefanie Wortelkamp; René P Zahedi; Dorothea Becker; Claudia Leidhold; Kris Gevaert; Josef Kellermann; Wolfgang Voos; Albert Sickmann; Nikolaus Pfanner; Chris Meisinger
Journal:  Cell       Date:  2009-10-16       Impact factor: 41.582

4.  Novel PTEN mutations in patients with Cowden disease: absence of clear genotype-phenotype correlations.

Authors:  M R Nelen; H Kremer; I B Konings; F Schoute; A J van Essen; R Koch; C G Woods; J P Fryns; B Hamel; L H Hoefsloot; E A Peeters; G W Padberg
Journal:  Eur J Hum Genet       Date:  1999-04       Impact factor: 4.246

5.  Crystal structure of mitochondrial respiratory membrane protein complex II.

Authors:  Fei Sun; Xia Huo; Yujia Zhai; Aojin Wang; Jianxing Xu; Dan Su; Mark Bartlam; Zihe Rao
Journal:  Cell       Date:  2005-07-01       Impact factor: 41.582

6.  Germline mutations and variants in the succinate dehydrogenase genes in Cowden and Cowden-like syndromes.

Authors:  Ying Ni; Kevin M Zbuk; Tammy Sadler; Attila Patocs; Glenn Lobo; Emily Edelman; Petra Platzer; Mohammed S Orloff; Kristin A Waite; Charis Eng
Journal:  Am J Hum Genet       Date:  2008-08       Impact factor: 11.025
  6 in total
  3 in total

1.  Insertion of Alu elements at a PTEN hotspot in Cowden syndrome.

Authors:  Louise Crivelli; Virginie Bubien; Natalie Jones; Jennifer Chiron; Françoise Bonnet; Emmanuelle Barouk-Simonet; Patrice Couzigou; Nicolas Sevenet; Frédéric Caux; Michel Longy
Journal:  Eur J Hum Genet       Date:  2017-05-17       Impact factor: 4.246

2.  Germline SDHx variants modify breast and thyroid cancer risks in Cowden and Cowden-like syndrome via FAD/NAD-dependant destabilization of p53.

Authors:  Ying Ni; Xin He; Jinlian Chen; Jessica Moline; Jessica Mester; Mohammed S Orloff; Matthew D Ringel; Charis Eng
Journal:  Hum Mol Genet       Date:  2011-10-06       Impact factor: 6.150

3.  Germline and somatic SDHx alterations in apparently sporadic differentiated thyroid cancer.

Authors:  Ying Ni; Spencer Seballos; Shireen Ganapathi; Danielle Gurin; Benjamin Fletcher; Joanne Ngeow; Rebecca Nagy; Richard T Kloos; Matthew D Ringel; Thomas LaFramboise; Charis Eng
Journal:  Endocr Relat Cancer       Date:  2015-04       Impact factor: 5.678
  3 in total

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