Literature DB >> 25602158

Fibroadipose hyperplasia versus Proteus syndrome: segmental overgrowth with a mosaic mutation in the PIK3CA gene.

Leila Youssefian1, Hassan Vahidnezhad2, Taghi Baghdadi3, Alireza Ghaznavi3, Qiaoli Li4, Mina Tabrizi5, Jouni Uitto6.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2015        PMID： 25602158     DOI： 10.1038/jid.2015.15

Source DB:  PubMed          Journal:  J Invest Dermatol        ISSN： 0022-202X            Impact factor:   8.551


× No keyword cloud information.
  15 in total

Review 1.  The challenges of Proteus syndrome: diagnosis and management.

Authors:  Leslie Biesecker
Journal:  Eur J Hum Genet       Date:  2006-08-02       Impact factor: 4.246

2.  A limited form of proteus syndrome with bilateral plantar cerebriform collagenomas and varicose veins secondary to a mosaic AKT1 mutation.

Authors:  Jamie S Wee; Peter S Mortimer; Marjorie J Lindhurst; Heung Chong; Leslie G Biesecker; Colin A Holden
Journal:  JAMA Dermatol       Date:  2014-09       Impact factor: 10.282

3.  Lethal genes surviving by mosaicism: a possible explanation for sporadic birth defects involving the skin.

Authors:  R Happle
Journal:  J Am Acad Dermatol       Date:  1987-04       Impact factor: 11.527

Review 4.  A genomic view of mosaicism and human disease.

Authors:  Leslie G Biesecker; Nancy B Spinner
Journal:  Nat Rev Genet       Date:  2013-05       Impact factor: 53.242

5.  Somatic activation of AKT3 causes hemispheric developmental brain malformations.

Authors:  Annapurna Poduri; Gilad D Evrony; Xuyu Cai; Princess Christina Elhosary; Rameen Beroukhim; Maria K Lehtinen; L Benjamin Hills; Erin L Heinzen; Anthony Hill; R Sean Hill; Brenda J Barry; Blaise F D Bourgeois; James J Riviello; A James Barkovich; Peter M Black; Keith L Ligon; Christopher A Walsh
Journal:  Neuron       Date:  2012-04-12       Impact factor: 17.173

6.  Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome.

Authors:  Kyle C Kurek; Valerie L Luks; Ugur M Ayturk; Ahmad I Alomari; Steven J Fishman; Samantha A Spencer; John B Mulliken; Margot E Bowen; Guilherme L Yamamoto; Harry P W Kozakewich; Matthew L Warman
Journal:  Am J Hum Genet       Date:  2012-05-31       Impact factor: 11.025

7.  Megalencephaly syndromes and activating mutations in the PI3K-AKT pathway: MPPH and MCAP.

Authors:  Ghayda M Mirzaa; Jean-Baptiste Rivière; William B Dobyns
Journal:  Am J Med Genet C Semin Med Genet       Date:  2013-04-16       Impact factor: 3.908

8.  An activating mutation of AKT2 and human hypoglycemia.

Authors:  K Hussain; B Challis; N Rocha; F Payne; M Minic; A Thompson; A Daly; C Scott; J Harris; B J L Smillie; D B Savage; U Ramaswami; P De Lonlay; S O'Rahilly; I Barroso; R K Semple
Journal:  Science       Date:  2011-10-06       Impact factor: 47.728

9.  De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes.

Authors:  Jean-Baptiste Rivière; Ghayda M Mirzaa; Brian J O'Roak; Margaret Beddaoui; Diana Alcantara; Robert L Conway; Judith St-Onge; Jeremy A Schwartzentruber; Karen W Gripp; Sarah M Nikkel; Thea Worthylake; Christopher T Sullivan; Thomas R Ward; Hailly E Butler; Nancy A Kramer; Beate Albrecht; Christine M Armour; Linlea Armstrong; Oana Caluseriu; Cheryl Cytrynbaum; Beth A Drolet; A Micheil Innes; Julie L Lauzon; Angela E Lin; Grazia M S Mancini; Wendy S Meschino; James D Reggin; Anand K Saggar; Tally Lerman-Sagie; Gökhan Uyanik; Rosanna Weksberg; Birgit Zirn; Chandree L Beaulieu; Jacek Majewski; Dennis E Bulman; Mark O'Driscoll; Jay Shendure; John M Graham; Kym M Boycott; William B Dobyns
Journal:  Nat Genet       Date:  2012-06-24       Impact factor: 38.330

10.  Protein structure analysis of mutations causing inheritable diseases. An e-Science approach with life scientist friendly interfaces.

Authors:  Hanka Venselaar; Tim A H Te Beek; Remko K P Kuipers; Maarten L Hekkelman; Gert Vriend
Journal:  BMC Bioinformatics       Date:  2010-11-08       Impact factor: 3.169
View more
  5 in total

1.  Copy number variants in a population-based investigation of Klippel-Trenaunay syndrome.

Authors:  Aggeliki Dimopoulos; Robert J Sicko; Denise M Kay; Shannon L Rigler; Ruzong Fan; Paul A Romitti; Marilyn L Browne; Charlotte M Druschel; Michele Caggana; Lawrence C Brody; James L Mills
Journal:  Am J Med Genet A       Date:  2016-11-30       Impact factor: 2.802

2.  PIK3CA c.3140A>G mutation in a patient with suspected Proteus Syndrome: a case report.

Authors:  Virginia Valentini; Veronica Zelli; Piera Rizzolo; Valentina Silvestri; Maurizio Alimandi; Maria Michela D'Aloia; Sandra Giustini; Stefano Calvieri; Antonio Giovanni Richetta; Giovanni Monteleone; Laura Ottini
Journal:  Clin Case Rep       Date:  2018-06-02

3.  Fibro-adipose vascular anomaly (FAVA): three case reports with an emphasis on the mammalian target of rapamycin (mTOR) pathway.

Authors:  Yumiko Hori; Katsutoshi Hirose; Noriko Aramaki-Hattori; Sachi Suzuki; Robert Nakayama; Masanori Inoue; Takahiro Matsui; Masaharu Kohara; Satoru Toyosawa; Eiichi Morii
Journal:  Diagn Pathol       Date:  2020-07-25       Impact factor: 2.644

Review 4.  The Klippel-Trénaunay Syndrome in 2022: Unravelling Its Genetic and Molecular Profile and Its Link to the Limb Overgrowth Syndromes.

Authors:  Patrick Harnarayan; Dave Harnanan
Journal:  Vasc Health Risk Manag       Date:  2022-04-02

Review 5.  A Review on Cutaneous and Musculoskeletal Manifestations of CLOVES Syndrome.

Authors:  Emel Öztürk Durmaz; Deniz Demircioğlu; Pınar Yalınay Dikmen; Yasemin Alanay; Ahmet Alanay; Cüyan Demirkesen; Fatma Tokat; Ercan Karaarslan
Journal:  Clin Cosmet Investig Dermatol       Date:  2022-04-13
  5 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.