[HTML][HTML] Deciphering osteoarthritis genetics across 826,690 individuals from 9 populations

CG Boer, K Hatzikotoulas, L Southam, L Stefánsdóttir… - Cell, 2021 - cell.com
Osteoarthritis affects over 300 million people worldwide. Here, we conduct a genome-wide
association study meta-analysis across 826,690 individuals (177,517 with osteoarthritis) and …

Genetic overview of postaxial polydactyly: updated classification

Z Ahmad, R Liaqat, O Palander, M Bilal, S Zeb… - Clinical …, 2023 - Wiley Online Library
Polydactyly or polydactylism, also known as a hyperdactyly, is a congenital limb defect with
various morphologic phenotypes. Apart from physical and functional impairments, the …

The role of WNT10B in physiology and disease: a 10-year update

RS Perkins, R Singh, AN Abell, SA Krum… - Frontiers in Cell and …, 2023 - frontiersin.org
WNT10B, a member of the WNT family of secreted glycoproteins, activates the WNT/β-
catenin signaling cascade to control proliferation, stemness, pluripotency, and cell fate …

Nonsyndromic split-hand/foot malformation: recent classification

M Umair, A Hayat - Molecular Syndromology, 2019 - karger.com
Split-hand/foot malformation (SHFM) is a genetic limb anomaly disturbing the central rays of
the autopod. SHFM is a genetically heterogeneous disorder with variable expressivity …

Exome sequencing revealed a novel loss‐of‐function variant in the GLI3 transcriptional activator 2 domain underlies nonsyndromic postaxial polydactyly

M Umair, N Wasif, AM Albalawi… - Molecular genetics & …, 2019 - Wiley Online Library
Background Polydactyly is a common genetic limb deformity characterized by the presence
of extra fingers or toes. This anomaly may occur in isolation (nonsyndromic) or as part of a …

Homozygous Missense Variant in the Solute Carrier Organic Anion Transporter 2A1 (SLCO2A1) Gene Underlies Isolated Nail Clubbing

M Umair, M Bilal, K Shah, G Said, F Ahmad - Genes, 2023 - mdpi.com
Background: Inherited isolated nail clubbing is a very rare Mendelian condition in humans,
characterized by enlargement of the terminal segments of fingers and toes with thickened …

A comprehensive review of genetic skeletal disorders reported from Pakistan: a brief commentary

M Umair, F Ahamd, M Bilal, A Asiri, M Younus, A Khan - Meta Gene, 2019 - Elsevier
Genetic skeletal disorders (GSDs) constitute a heterogeneous, rare and a distinctive group
of rare bone growth disorders, leading to abnormal size and shape of the skeleton …

[PDF][PDF] Genetic advances in skeletal disorders: an overview

S Abbas, H Khan, Q Alam, A Mahmood… - J Biochem Clin …, 2023 - researchgate.net
Genetic skeletal disorders (GSDs) are a large group of rare heterogeneous disorders
characterized by abnormal development, remodeling, and growth of the human skeleton's …

[HTML][HTML] Split Hand-Foot and Deafness in a Patient with 7q21.13-q21.3 Deletion Not Including the DLX5/6 Genes

I Ambrosetti, L Bernardini, M Pollazzon, MG Giuffrida… - Genes, 2023 - mdpi.com
Split Hand-Foot Malformation (SHFM) is a congenital limb defect characterized by a median
cleft of the hands and/or feet due to the absence/hypoplasia of the central rays. It may occur …

The molecular genetics of human appendicular skeleton

S Ahmad, MZ Ali, M Muzammal, FA Mir… - Molecular Genetics and …, 2022 - Springer
Disorders that result from de-arrangement of growth, development and/or differentiation of
the appendages (limbs and digit) are collectively called as inherited abnormalities of human …