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 GPSM2 mutations in Chudley-McCullough syndrome.

Literature DB >> 22987632

GPSM2 mutations in Chudley-McCullough syndrome.

Oscar Diaz-Horta¹, Asli Sirmaci, Dan Doherty, Walter Nance, Kathleen Arnos, Arti Pandya, Mustafa Tekin.

Abstract

Entities: Chemical Disease Gene Mutation Species

Mesh：

Substances：

Year: 2012 PMID： 22987632 PMCID： PMC3657751 DOI： 10.1002/ajmg.a.35636

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

× No keyword cloud information.

7 in total

1. Chudley-McCullough syndrome: expanded phenotype and review of the literature.

Authors: Katherine Oelrich Welch; Mustafa Tekin; Walter E Nance; Susan H Blanton; Kathleen S Arnos; Arti Pandya
Journal: Am J Med Genet A Date: 2003-05-15 Impact factor: 2.802

Review 2. Chudley-McCullough syndrome: another report and a brief review of the literature.

Authors: Ismail Alrashdi; Robert Barker; Michael A Patton
Journal: Clin Dysmorphol Date: 2011-04 Impact factor: 0.816

3. Bilateral sensorineural deafness and hydrocephalus due to foramen of Monro obstruction in sibs: a newly described autosomal recessive disorder.

Authors: A E Chudley; C McCullough; D W McCullough
Journal: Am J Med Genet Date: 1997-01-31

4. A truncating mutation in GPSM2 is associated with recessive non-syndromic hearing loss.

Authors: K O Yariz; T Walsh; H Akay; D Duman; A C Akkaynak; M-C King; M Tekin
Journal: Clin Genet Date: 2011-03-15 Impact factor: 4.438

5. Direct binding of Lgl2 to LGN during mitosis and its requirement for normal cell division.

Authors: Masato Yasumi; Toshiaki Sakisaka; Takashi Hoshino; Toshihiro Kimura; Yasuhisa Sakamoto; Tomoyuki Yamanaka; Shigeo Ohno; Yoshimi Takai
Journal: J Biol Chem Date: 2005-01-04 Impact factor: 5.157

6. Whole exome sequencing and homozygosity mapping identify mutation in the cell polarity protein GPSM2 as the cause of nonsyndromic hearing loss DFNB82.

Authors: Tom Walsh; Hashem Shahin; Tal Elkan-Miller; Ming K Lee; Anne M Thornton; Wendy Roeb; Amal Abu Rayyan; Suheir Loulus; Karen B Avraham; Mary-Claire King; Moien Kanaan
Journal: Am J Hum Genet Date: 2010-06-17 Impact factor: 11.025

7. GPSM2 mutations cause the brain malformations and hearing loss in Chudley-McCullough syndrome.

Authors: Dan Doherty; Albert E Chudley; Gail Coghlan; Gisele E Ishak; A Micheil Innes; Edmond G Lemire; R Curtis Rogers; Aizeddin A Mhanni; Ian G Phelps; Steven J M Jones; Shing H Zhan; Anthony P Fejes; Hashem Shahin; Moien Kanaan; Hatice Akay; Mustafa Tekin; Barbara Triggs-Raine; Teresa Zelinski
Journal: Am J Hum Genet Date: 2012-05-10 Impact factor: 11.025

7 in total

12 in total

Review 1. Clinical, genetic and imaging findings identify new causes for corpus callosum development syndromes.

Authors: Timothy J Edwards; Elliott H Sherr; A James Barkovich; Linda J Richards
Journal: Brain Date: 2014-01-28 Impact factor: 13.501

Review 2. Spindle positioning and its impact on vertebrate tissue architecture and cell fate.

Authors: Terry Lechler; Marina Mapelli
Journal: Nat Rev Mol Cell Biol Date: 2021-06-22 Impact factor: 94.444

3. Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss.

Authors: Andrea M Oza; Marina T DiStefano; Sarah E Hemphill; Brandon J Cushman; Andrew R Grant; Rebecca K Siegert; Jun Shen; Alex Chapin; Nicole J Boczek; Lisa A Schimmenti; Jaclyn B Murry; Linda Hasadsri; Kiyomitsu Nara; Margaret Kenna; Kevin T Booth; Hela Azaiez; Andrew Griffith; Karen B Avraham; Hannie Kremer; Heidi L Rehm; Sami S Amr; Ahmad N Abou Tayoun
Journal: Hum Mutat Date: 2018-11 Impact factor: 4.878

Review 4. Development of the cochlea.

Authors: Elizabeth Carroll Driver; Matthew W Kelley
Journal: Development Date: 2020-06-22 Impact factor: 6.868

5. The GPSM2/LGN GoLoco motifs are essential for hearing.

Authors: Yoni Bhonker; Amal Abu-Rayyan; Kathy Ushakov; Liat Amir-Zilberstein; Shaked Shivatzki; Ofer Yizhar-Barnea; Tal Elkan-Miller; Einav Tayeb-Fligelman; Sun Myoung Kim; Meytal Landau; Moien Kanaan; Ping Chen; Fumio Matsuzaki; David Sprinzak; Karen B Avraham
Journal: Mamm Genome Date: 2015-12-11 Impact factor: 2.957