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Literature DB >> 24668585

Whole genome sequencing identifies a novel occludin mutation in microcephaly with band-like calcification and polymicrogyria that extends the phenotypic spectrum.

Mahmoud F Elsaid¹, Hussein Kamel, Nader Chalhoub, Nahla Abdel Aziz, Khalid Ibrahim, Tawfeg Ben-Omran, Binu George, Eman Al-Dous, Yasmin Mohamoud, Joel A Malek, M Elizabeth Ross, Alice Abdel Aleem.

Abstract

Entities: Disease Gene

Mesh：

Substances：

Year: 2014 PMID： 24668585 DOI： 10.1002/ajmg.a.36485

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

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6 in total

Review 1. The inner blood-retinal barrier: Cellular basis and development.

Authors: Mónica Díaz-Coránguez; Carla Ramos; David A Antonetti
Journal: Vision Res Date: 2017-06-27 Impact factor: 1.886

2. Loss of function of PCDH12 underlies recessive microcephaly mimicking intrauterine infection.

Authors: Adi Aran; Nuphar Rosenfeld; Ranit Jaron; Paul Renbaum; Shachar Zuckerman; Hila Fridman; Sharon Zeligson; Reeval Segel; Yoav Kohn; Lara Kamal; Moien Kanaan; Yoram Segev; Eyal Mazaki; Ron Rabinowitz; Ori Shen; Ming Lee; Tom Walsh; Mary Claire King; Suleyman Gulsuner; Ephrat Levy-Lahad
Journal: Neurology Date: 2016-04-29 Impact factor: 9.910

3. Band-like calcification with simplified gyration and polymicrogyria: report of 10 new families and identification of five novel OCLN mutations.

Authors: Mohamed S Abdel-Hamid; Ghada M H Abdel-Salam; Mahmoud Y Issa; Bayoumi A Emam; Maha S Zaki
Journal: J Hum Genet Date: 2017-02-09 Impact factor: 3.172

Whole genome sequencing identifies a novel occludin mutation in microcephaly with band-like calcification and polymicrogyria that extends the phenotypic spectrum.

Review 1. The inner blood-retinal barrier: Cellular basis and development.

2. Loss of function of PCDH12 underlies recessive microcephaly mimicking intrauterine infection.

3. Band-like calcification with simplified gyration and polymicrogyria: report of 10 new families and identification of five novel OCLN mutations.

4. Dentin sialoprotein facilitates dental mesenchymal cell differentiation and dentin formation.

Review 5. Tight Junctions in Cell Proliferation.

6. Tight junction protein occludin regulates progenitor Self-Renewal and survival in developing cortex.