Mutation analysis of theSTRA6gene in isolated and non-isolated anophthalmia/microphthalmia-Reference-Cited by-同舟云学术

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Mutation analysis of theSTRA6gene in isolated and non-isolated anophthalmia/microphthalmia

Published:2013-03 Issue:3 Volume:83 Page:244-250
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:

Author:

Chassaing N¹²,Ragge N³⁴,Kariminejad A⁵,Buffet A¹,Ghaderi-Sohi S⁵,Martinovic J⁶,Calvas P¹²

Affiliation:

1. Department of Medical Genetics; CHU Toulouse, Purpan Hospital; 31059 Toulouse France

2. EA-4555; Toulouse III Paul-Sabatier University; 31000 Toulouse France

3. Wessex Regional Genetics Service; Princess Anne Hospital; Southampton Hampshire SO16 5YA UK

4. School of Life Sciences; Oxford Brookes University; Oxford OX3 0BP UK

5. Kariminejad Najmabadi Pathology and Genetic Center; Tehran 14667 Iran

6. Department of Fetal Pathology; Antoine Beclere Hospital; 92141 Clamart France

Funder

French Ministry of Health

National Institutes of Health

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.2012.01904.x/fullpdf

Reference13 articles.

1. The PDAC syndrome (pulmonary hypoplasia/agenesis, diaphragmatic hernia/eventration, anophthalmia/microphthalmia, and cardiac defect) (Spear syndrome, Matthew-Wood syndrome): report of eight cases including a living child and further evidence for autosomal recessive inheritance;Chitayat;Am J Med Genet A,2007

2. A membrane receptor for retinol binding protein mediates cellular uptake of vitamin A;Kawaguchi;Science,2007

3. Phenotypic spectrum of STRA6 mutations: from Matthew-Wood syndrome to non-lethal anophthalmia;Chassaing;Hum Mutat,2009

4. Matthew-Wood syndrome is caused by truncating mutations in the retinol-binding protein receptor gene STRA6;Golzio;Am J Hum Genet,2007

5. Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation;Pasutto;Am J Hum Genet,2007

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1. Role of genetics and the environment in the etiology of congenital diaphragmatic hernia;World Journal of Pediatric Surgery;2024-08

2. A founder variant expands the phenotype of WNT7B‐related PDAC syndrome;Clinical Genetics;2024-02-28

3. STRA6 is essential for induction of vascular smooth muscle lineages in human embryonic cardiac outflow tract development;Cardiovascular Research;2023-01-13

4. Identification of HSPA8 as an interacting partner of MAB21L2 and an important factor in eye development;Developmental Dynamics;2023-01-06

5. Genetic tuning of β-carotene oxygenase-1 activity rescues cone photoreceptor function in STRA6-deficient mice;Human Molecular Genetics;2022-09-23

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