Clinical and genetic findings in <scp> <i>TRPM1</i> </scp> ‐related congenital stationary night blindness-Reference-Cited by-同舟云学术

Clinical and genetic findings in TRPM1 ‐related congenital stationary night blindness

Published:2022-05-28 Issue:6 Volume:100 Page:
ISSN:1755-375X
Container-title:Acta Ophthalmologica
language:en
Short-container-title:Acta Ophthalmologica

Author:

Iosifidis Christos¹²³^ORCID,Liu Jingshu¹,Gale Theodora²,Ellingford Jamie M.¹²,Campbell Christopher²,Ingram Stuart²,Chandler Kate²,Parry Neil R. A.³⁴,Black Graeme C.¹²,Sergouniotis Panagiotis I.¹²³⁵^ORCID

Affiliation:

1. Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicines and Health University of Manchester Manchester UK

2. Manchester Centre for Genomic Medicine, Saint Mary's Hospital Manchester University NHS Foundation Trust Manchester UK

3. Manchester Royal Eye Hospital Manchester University NHS Foundation Trust Manchester UK

4. Division of Pharmacy and Optometry, School of Health Sciences, Faculty of Biology, Medicines and Health University of Manchester Manchester UK

5. Institute of Biochemistry and Molecular Genetics, Faculty of Medicine University of Ljubljana Ljubljana Slovenia

Publisher

Wiley

Subject

Ophthalmology,General Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/aos.15186

Reference50 articles.

1. A Large Endoplasmic Reticulum-Resident Pool of TRPM1 in Retinal ON-Bipolar Cells

2. TRPM1 Is Mutated in Patients with Autosomal-Recessive Complete Congenital Stationary Night Blindness

3. Congenital stationary night blindness in a patient with mild learning disability due to a compound heterozygous microdeletion of 15q13 and a missense mutation in TRPM1

4. Mutations in the CEP290 (NPHP6) Gene Are a Frequent Cause of Leber Congenital Amaurosis

5. The 15q13.3 deletion syndrome: Deficient α7-containing nicotinic acetylcholine receptor-mediated neurotransmission in the pathogenesis of neurodevelopmental disorders

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