Varaico: Literature-Extracted Genetic Variants

Gene:ADAMTSL2
Variant:p.R221C
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ADAMTSL2

NM_014694.4:p.R221C

Associated Papers

Comparative genomic and clinicopathological analysis uncovers contrasting molecular profiles of canine and human thyroid carcinomas.

Das S et al.

Communications Biology, 2025

41353477 (PubMed )
Supplement: 42003_2025_9225_MOESM3_ESM.xlsx › Supplementary_Data_8

PCR-based detection of hereditary mutations in SLC2A9, BTBD17, and NECAP1 among native Korean dog breeds.

Kang M et al.

Journal of Veterinary Science, 2025

40765230 (PubMed )
Supplement: jvs-26-e48-s001.xls › Supplementary_Table_1

Emerging roles for the ADAMTS-like family of matricellular proteins in cardiovascular disease through regulation of the extracellular microenvironment.

Rypdal KB et al.

Molecular Biology Reports, 2024

ADAMTSL2 mutations determine the phenotypic severity in geleophysic dysplasia.

Camarena V et al.

Jci Insight, 2024

Al-Gazali Skeletal Dysplasia Constitutes the Lethal End of ADAMTSL2-Related Disorders.

Batkovskyte D et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2023

Genetics of inherited skin disorders in dogs.

Leeb T et al.

Veterinary Journal (london, England : 1997), 2022

Geleophysic dysplasia: novel missense variants and insights into ADAMTSL2 intracellular trafficking.

Piccolo P et al.

Molecular Genetics and Metabolism Reports, 2019

Clinical Phenotype of Musladin-Lueke Syndrome in 2 Beagles.

Packer RA et al.

Journal of Veterinary Internal Medicine, 2017

Genetic testing in veterinary dermatology.

Leeb T et al.

Veterinary Dermatology, 2017

Adamtsl2 deletion results in bronchial fibrillin microfibril accumulation and bronchial epithelial dysplasia--a novel mouse model providing insights into geleophysic dysplasia.

Hubmacher D et al.

Disease Models & Mechanisms, 2015

Novel mutations in ADAMTSL2 gene underlying geleophysic dysplasia in families from United Arab Emirates.

Ben-Salem S et al.

Birth Defects Research. Part A, Clinical and Molecular Teratology, 2013

Genetic and functional linkage between ADAMTS superfamily proteins and fibrillin-1: a novel mechanism influencing microfibril assembly and function.

Hubmacher D et al.

Cellular and Molecular Life Sciences : Cmls, 2011

Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia.

Allali S et al.

Journal of Medical Genetics, 2011

An ADAMTSL2 founder mutation causes Musladin-Lueke Syndrome, a heritable disorder of beagle dogs, featuring stiff skin and joint contractures.

Bader HL et al.

Plos One, 2010

Insights on ADAMTS proteases and ADAMTS-like proteins from mammalian genetics.

Dubail J et al.

Matrix Biology : Journal of the International Society for Matrix Biology, 0

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