Literature DB >> 26035800

Response to Heller and Bolz.

Zi-Bing Jin1, Xiu-Feng Huang1.   

Abstract

Entities:  

Mesh：

Year:  2015        PMID： 26035800     DOI： 10.1038/gim.2015.48

Source DB:  PubMed          Journal:  Genet Med        ISSN： 1098-3600            Impact factor:   8.822


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  16 in total

1.  AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome.

Authors:  M A Parisi; D Doherty; M L Eckert; D W W Shaw; H Ozyurek; S Aysun; O Giray; A Al Swaid; S Al Shahwan; N Dohayan; E Bakhsh; O S Indridason; W B Dobyns; C L Bennett; P F Chance; I A Glass
Journal:  J Med Genet       Date:  2005-09-09       Impact factor: 6.318

2.  Loss of Ahi1 affects early development by impairing BM88/Cend1-mediated neuronal differentiation.

Authors:  Ling Weng; Yung-Feng Lin; Alina L Li; Chuan-En Wang; Sen Yan; Miao Sun; Marta A Gaertig; Naureen Mitha; Jun Kosaka; Taketoshi Wakabayashi; Xingshun Xu; Beisha Tang; Shihua Li; Xiao-Jiang Li
Journal:  J Neurosci       Date:  2013-05-08       Impact factor: 6.167

3.  AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders.

Authors:  Enza Maria Valente; Francesco Brancati; Jennifer L Silhavy; Marco Castori; Sarah E Marsh; Giuseppe Barrano; Enrico Bertini; Eugen Boltshauser; Maha S Zaki; Alice Abdel-Aleem; Ghada M H Abdel-Salam; Emanuele Bellacchio; Roberta Battini; Robert P Cruse; William B Dobyns; Kalpathy S Krishnamoorthy; Clotilde Lagier-Tourenne; Alex Magee; Ignacio Pascual-Castroviejo; Carmelo D Salpietro; Dean Sarco; Bruno Dallapiccola; Joseph G Gleeson
Journal:  Ann Neurol       Date:  2006-03       Impact factor: 10.422

4.  The Joubert syndrome-associated missense mutation (V443D) in the Abelson-helper integration site 1 (AHI1) protein alters its localization and protein-protein interactions.

Authors:  Karina Tuz; Yi-Chun Hsiao; Oscar Juárez; Bingxing Shi; Erin Y Harmon; Ian G Phelps; Michelle R Lennartz; Ian A Glass; Dan Doherty; Russell J Ferland
Journal:  J Biol Chem       Date:  2013-03-26       Impact factor: 5.157

5.  Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome.

Authors:  Russell J Ferland; Wafaa Eyaid; Randall V Collura; Laura D Tully; R Sean Hill; Doha Al-Nouri; Ahmed Al-Rumayyan; Meral Topcu; Generoso Gascon; Adria Bodell; Yin Yao Shugart; Maryellen Ruvolo; Christopher A Walsh
Journal:  Nat Genet       Date:  2004-08-22       Impact factor: 38.330

6.  Ahi-1, a novel gene encoding a modular protein with WD40-repeat and SH3 domains, is targeted by the Ahi-1 and Mis-2 provirus integrations.

Authors:  Xiaoyan Jiang; Zaher Hanna; Mohammadi Kaouass; Luc Girard; Paul Jolicoeur
Journal:  J Virol       Date:  2002-09       Impact factor: 5.103

7.  DNA analysis of AHI1, NPHP1 and CYCLIN D1 in Joubert syndrome patients from the Netherlands.

Authors:  Hester Y Kroes; Patrick H A van Zon; Dietje Fransen van de Putte; Marcel R Nelen; Rutger-Jan Nievelstein; Dienke Wittebol-Post; Onno van Nieuwenhuizen; Grazia M S Mancini; Marjo S van der Knaap; Mei Lan Kwee; Saskia M Maas; Jan Maarten Cobben; Jacques E E De Nef; Dick Lindhout; Richard J Sinke
Journal:  Eur J Med Genet       Date:  2007-10-06       Impact factor: 2.708

8.  The challenge of defining pathogenicity: the example of AHI1.

Authors:  Raoul Heller; Hanno J Bolz
Journal:  Genet Med       Date:  2015-06       Impact factor: 8.822

9.  Genotype-phenotype correlation and mutation spectrum in a large cohort of patients with inherited retinal dystrophy revealed by next-generation sequencing.

Authors:  Xiu-Feng Huang; Fang Huang; Kun-Chao Wu; Juan Wu; Jie Chen; Chi-Pui Pang; Fan Lu; Jia Qu; Zi-Bing Jin
Journal:  Genet Med       Date:  2014-11-06       Impact factor: 8.822

10.  Mechanistically distinct mouse models for CRX-associated retinopathy.

Authors:  Nicholas M Tran; Alan Zhang; Xiaodong Zhang; Julie B Huecker; Anne K Hennig; Shiming Chen
Journal:  PLoS Genet       Date:  2014-02-06       Impact factor: 5.917
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