Warning: Undefined array key "mm" in /www/wwwroot/www.ai-bt.com/si.php on line 10 Deprecated: trim(): Passing null to parameter #1 ($string) of type string is deprecated in /www/wwwroot/www.ai-bt.com/si.php on line 10 Multilineage ACTB mutation in a patient with fibro-osseous maxillary lesion and pilocytic astrocytoma.

Literature DB >> 30152002

Multilineage ACTB mutation in a patient with fibro-osseous maxillary lesion and pilocytic astrocytoma.

Young H Lim^1,2,3, Andrea B Burke^4,5, Mary S Roberts⁴, Michael T Collins⁴, Keith A Choate^1,2,3.

Abstract

Entities: Chemical Disease Gene Mutation Species

Keywords: actin; astrocytoma; exome sequencing; human genetics; mosaicism

Mesh：

Substances：
Actins

Year: 2018 PMID： 30152002 PMCID： PMC6294147 DOI： 10.1002/ajmg.a.40475

Source DB: PubMed Journal: Am J Med Genet A ISSN： 1552-4825 Impact factor: 2.802

Keyword Cloud
References

× No keyword cloud information.

28 in total

Review 1. Review and hypotheses: somatic mosaicism: observations related to clinical genetics.

Authors: J G Hall
Journal: Am J Hum Genet Date: 1988-10 Impact factor: 11.025

2. A mutation of beta -actin that alters depolymerization dynamics is associated with autosomal dominant developmental malformations, deafness, and dystonia.

Authors: Vincent Procaccio; Gloria Salazar; Shoichiro Ono; Melanie L Styers; Marla Gearing; Antonio Davila; Richard Jimenez; Jorge Juncos; Claire-Anne Gutekunst; Germana Meroni; Bianca Fontanella; Estelle Sontag; Jean Marie Sontag; Victor Faundez; Bruce H Wainer
Journal: Am J Hum Genet Date: 2006-04-21 Impact factor: 11.025

3. Postzygotic Mutations in Beta-Actin Are Associated with Becker's Nevus and Becker's Nevus Syndrome.

Authors: Emily D Cai; Bryan K Sun; Audris Chiang; Anna Rogers; Laura Bernet; Binbin Cheng; Joyce Teng; Kerri E Rieger; Kavita Y Sarin
Journal: J Invest Dermatol Date: 2017-03-24 Impact factor: 8.551

4. Multilineage somatic activating mutations in HRAS and NRAS cause mosaic cutaneous and skeletal lesions, elevated FGF23 and hypophosphatemia.

Authors: Young H Lim; Diana Ovejero; Jeffrey S Sugarman; Cynthia M C Deklotz; Ann Maruri; Lawrence F Eichenfield; Patrick K Kelley; Harald Jüppner; Michael Gottschalk; Cynthia J Tifft; Rachel I Gafni; Alison M Boyce; Edward W Cowen; Nisan Bhattacharyya; Lori C Guthrie; William A Gahl; Gretchen Golas; Erin C Loring; John D Overton; Shrikant M Mane; Richard P Lifton; Moise L Levy; Michael T Collins; Keith A Choate
Journal: Hum Mol Genet Date: 2013-09-04 Impact factor: 6.150

5. From FastQ data to high confidence variant calls: the Genome Analysis Toolkit best practices pipeline.

Authors: Geraldine A Van der Auwera; Mauricio O Carneiro; Christopher Hartl; Ryan Poplin; Guillermo Del Angel; Ami Levy-Moonshine; Tadeusz Jordan; Khalid Shakir; David Roazen; Joel Thibault; Eric Banks; Kiran V Garimella; David Altshuler; Stacey Gabriel; Mark A DePristo
Journal: Curr Protoc Bioinformatics Date: 2013

Review 6. Becker nevus syndrome.

Authors: R Happle; R J Koopman
Journal: Am J Med Genet Date: 1997-01-31

7. Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases.

Authors: Alain Verloes; Nataliya Di Donato; Julien Masliah-Planchon; Marjolijn Jongmans; Omar A Abdul-Raman; Beate Albrecht; Judith Allanson; Han Brunner; Debora Bertola; Nicolas Chassaing; Albert David; Koen Devriendt; Pirayeh Eftekhari; Valérie Drouin-Garraud; Francesca Faravelli; Laurence Faivre; Fabienne Giuliano; Leina Guion Almeida; Jorge Juncos; Marlies Kempers; Hatice Koçak Eker; Didier Lacombe; Angela Lin; Grazia Mancini; Daniela Melis; Charles Marques Lourenço; Victoria Mok Siu; Gilles Morin; Marjan Nezarati; Malgorzata J M Nowaczyk; Jeanette C Ramer; Sara Osimani; Nicole Philip; Mary Ella Pierpont; Vincent Procaccio; Zeichi-Seide Roseli; Massimiliano Rossi; Cristina Rusu; Yves Sznajer; Ludivine Templin; Vera Uliana; Mirjam Klaus; Bregje Van Bon; Conny Van Ravenswaaij; Bruce Wainer; Andrew E Fry; Andreas Rump; Alexander Hoischen; Séverine Drunat; Jean-Baptiste Rivière; William B Dobyns; Daniela T Pilz
Journal: Eur J Hum Genet Date: 2014-07-23 Impact factor: 4.246