Literature DB >> 15173253

Broader geographical spectrum of Cohen syndrome due to COH1 mutations.

G H Mochida1, A Rajab, W Eyaid, A Lu, D Al-Nouri, K Kosaki, M Noruzinia, P Sarda, J Ishihara, A Bodell, K Apse, C A Walsh.   

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Year:  2004        PMID： 15173253      PMCID： PMC1735796          DOI： 10.1136/jmg.2003.014779

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  14 in total

1.  Cohen syndrome - a rare genetic cause of hypotonia in children.

Authors:  Magdalena Budisteanu; Diana Barca; Sorina Mihaela Chirieac; Sanda Magureanu
Journal:  Maedica (Buchar)       Date:  2010-01

2.  Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome.

Authors:  W Seifert; M Holder-Espinasse; S Spranger; M Hoeltzenbein; E Rossier; H Dollfus; D Lacombe; A Verloes; K H Chrzanowska; G H B Maegawa; D Chitayat; D Kotzot; D Huhle; P Meinecke; B Albrecht; I Mathijssen; B Leheup; K Raile; H C Hennies; D Horn
Journal:  J Med Genet       Date:  2006-05       Impact factor: 6.318

3.  Cohen syndrome-associated protein, COH1, is a novel, giant Golgi matrix protein required for Golgi integrity.

Authors:  Wenke Seifert; Jirko Kühnisch; Tanja Maritzen; Denise Horn; Volker Haucke; Hans Christian Hennies
Journal:  J Biol Chem       Date:  2011-08-24       Impact factor: 5.157

4.  High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndrome.

Authors:  Veronica Parri; Eleni Katzaki; Vera Uliana; Francesca Scionti; Rossella Tita; Rosangela Artuso; Ilaria Longo; Renske Boschloo; Raymon Vijzelaar; Angelo Selicorni; Francesco Brancati; Bruno Dallapiccola; Leopoldo Zelante; Christian P Hamel; Pierre Sarda; Seema R Lalani; Rita Grasso; Sabrina Buoni; Joussef Hayek; Laurent Servais; Bert B A de Vries; Nelly Georgoudi; Sheena Nakou; Michael B Petersen; Francesca Mari; Alessandra Renieri; Francesca Ariani
Journal:  Eur J Hum Genet       Date:  2010-05-12       Impact factor: 4.246

5.  Vps13b is required for acrosome biogenesis through functions in Golgi dynamic and membrane trafficking.

Authors:  Romain Da Costa; Morgane Bordessoules; Magali Guilleman; Virginie Carmignac; Vincent Lhussiez; Hortense Courot; Amandine Bataille; Amandine Chlémaire; Céline Bruno; Patricia Fauque; Christel Thauvin; Laurence Faivre; Laurence Duplomb
Journal:  Cell Mol Life Sci       Date:  2019-06-19       Impact factor: 9.261

6.  Clinical and molecular characterization of Italian patients affected by Cohen syndrome.

Authors:  Eleni Katzaki; Chiara Pescucci; Vera Uliana; Filomena Tiziana Papa; Francesca Ariani; Ilaria Meloni; Manuela Priolo; Angelo Selicorni; Donatella Milani; Rita Fischetto; Maria Elena Celle; Rita Grasso; Bruno Dallapiccola; Francesco Brancati; Marta Bordignon; Romano Tenconi; Antonio Federico; Francesca Mari; Alessandra Renieri; Ilaria Longo
Journal:  J Hum Genet       Date:  2007-11-08       Impact factor: 3.172

7.  Cohen syndrome-associated protein COH1 physically and functionally interacts with the small GTPase RAB6 at the Golgi complex and directs neurite outgrowth.

Authors:  Wenke Seifert; Jirko Kühnisch; Tanja Maritzen; Stefanie Lommatzsch; Hans Christian Hennies; Sebastian Bachmann; Denise Horn; Volker Haucke
Journal:  J Biol Chem       Date:  2014-12-09       Impact factor: 5.157

8.  Using whole-exome sequencing to identify inherited causes of autism.

Authors:  Timothy W Yu; Maria H Chahrour; Michael E Coulter; Sarn Jiralerspong; Kazuko Okamura-Ikeda; Bulent Ataman; Klaus Schmitz-Abe; David A Harmin; Mazhar Adli; Athar N Malik; Alissa M D'Gama; Elaine T Lim; Stephan J Sanders; Ganesh H Mochida; Jennifer N Partlow; Christine M Sunu; Jillian M Felie; Jacqueline Rodriguez; Ramzi H Nasir; Janice Ware; Robert M Joseph; R Sean Hill; Benjamin Y Kwan; Muna Al-Saffar; Nahit M Mukaddes; Asif Hashmi; Soher Balkhy; Generoso G Gascon; Fuki M Hisama; Elaine LeClair; Annapurna Poduri; Ozgur Oner; Samira Al-Saad; Sadika A Al-Awadi; Laila Bastaki; Tawfeg Ben-Omran; Ahmad S Teebi; Lihadh Al-Gazali; Valsamma Eapen; Christine R Stevens; Leonard Rappaport; Stacey B Gabriel; Kyriacos Markianos; Matthew W State; Michael E Greenberg; Hisaaki Taniguchi; Nancy E Braverman; Eric M Morrow; Christopher A Walsh
Journal:  Neuron       Date:  2013-01-23       Impact factor: 17.173

9.  Genome-wide copy number variation association study suggested VPS13B gene for osteoporosis in Caucasians.

Authors:  F-Y Deng; L-J Zhao; Y-F Pei; B-Y Sha; X-G Liu; H Yan; L Wang; T-L Yang; R R Recker; C J Papasian; H-W Deng
Journal:  Osteoporos Int       Date:  2009-08-13       Impact factor: 4.507

10.  Changing facial phenotype in Cohen syndrome: towards clues for an earlier diagnosis.

Authors:  Salima El Chehadeh-Djebbar; Edward Blair; Muriel Holder-Espinasse; Anne Moncla; Anne-Marie Frances; Marlène Rio; François-Guillaume Debray; Patrick Rump; Alice Masurel-Paulet; Nadège Gigot; Patrick Callier; Laurence Duplomb; Bernard Aral; Frédéric Huet; Christel Thauvin-Robinet; Laurence Faivre
Journal:  Eur J Hum Genet       Date:  2012-11-28       Impact factor: 4.246
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