Variable skeletal phenotypes associated with biallelic variants in PRKG2-Reference-Cited by-同舟云学术

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Variable skeletal phenotypes associated with biallelic variants in PRKG2

Published:2021-11-15 Issue: Volume: Page:jmedgenet-2021-108027
ISSN:0022-2593
Container-title:Journal of Medical Genetics
language:en
Short-container-title:J Med Genet

Author:

Pagnamenta Alistair T^ORCID,Diaz-Gonzalez Francisca^ORCID,Banos-Pinero Benito,Ferla Matteo P,Toosi Mehran B,Calder Alistair D,Karimiani Ehsan G,Doosti Mohammad,Wainwright Andrew,Wordsworth Paul,Bailey Kathryn,Ejeskär Katarina,Lester Tracy,Maroofian Reza,Heath Karen E^ORCID,Tajsharghi Homa,Shears Deborah,Taylor Jenny C

Funder

NHS England

Spanish Ministry of Education

Wellcome

MINECO

Cancer Research UK

Medical Research Council

National Institute for Health Research

Seventh Framework Programme

Publisher

BMJ

Subject

Genetics (clinical),Genetics

Reference10 articles.

1. Turnbull C , Scott RH , Thomas E , Jones L , Murugaesu N , Pretty FB , Halai D , Baple E , Craig C , Hamblin A , Henderson S , Patch C , O'Neill A , Devereau A , Smith K , Martin AR , Sosinsky A , McDonagh EM , Sultana R , Mueller M , Smedley D , Toms A , Dinh L , Fowler T , Bale M , Hubbard T , Rendon A , Hill S , Caulfield MJ , O’Neill A , Genomes P , 100 000 Genomes Project . The 100 000 Genomes Project: bringing whole genome sequencing to the NHS. BMJ 2018;361:k1687. doi:10.1136/bmj.k1687

2. Díaz-González F , Wadhwa S , Rodriguez-Zabala M , Kumar S , Aza-Carmona M , Sentchordi-Montané L , Alonso M , Ahmad I , Zahra S , Kumar D , Kushwah N , Shamim U , Sait H , Kapoor S , Roldán B , Nishimura G , Offiah AC , Faruq M , Heath KE . Biallelic cGMP-dependent type II protein kinase gene (PRKG2) variants cause a novel acromesomelic dysplasia. J Med Genet 2020. doi:doi:10.1136/jmedgenet-2020-107177. [Epub ahead of print: 26 Oct 2020].

3. Intestinal Secretory Defects and Dwarfism in Mice Lacking cGMP-Dependent Protein Kinase II

4. Phenotypic characterization of the Komeda miniature rat Ishikawa, an animal model of dwarfism caused by a mutation in Prkg2;Tsuchida;Comp Med,2008

5. A nonsense mutation in cGMP-dependent type II protein kinase (PRKG2) causes dwarfism in American Angus cattle

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1. Trans-ancestral genome-wide association study of longitudinal pubertal height growth and shared heritability with adult health outcomes;Genome Biology;2024-01-16

2. Diagnostic exome identifies a novel PRKG2 mutation in a proband with skeletal dysplasia;Clinical Genetics;2023-12-10

3. Two new patients with acromesomelic dysplasia, PRKG2 type—identification and characterization of the first missense variant;European Journal of Human Genetics;2023-10-04

4. A novel variant in BMPR1B causes acromesomelic dysplasia Grebe type in a consanguineous Moroccan family: Expanding the phenotypic and mutational spectrum of acromesomelic dysplasias;Bone;2023-10

5. Assessing Genomic Diversity and Signatures of Selection in Chinese Red Steppe Cattle Using High-Density SNP Array;Animals;2023-05-22

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