Congenital disorders of deficiency in glycosaminoglycan biosynthesis

S Mizumoto, S Yamada - Frontiers in genetics, 2021 - frontiersin.org
Glycosaminoglycans (GAGs) including chondroitin sulfate, dermatan sulfate, and heparan
sulfate are covalently attached to specific core proteins to form proteoglycans, which are …

[HTML][HTML] Carbohydrate sulfotransferases: a review of emerging diagnostic and prognostic applications

G Begolli, I Marković, J Knežević, Ž Debeljak - Biochemia Medica, 2023 - hrcak.srce.hr
Sažetak Carbohydrate sulfotransferases (CHST) catalyse the biosynthesis of proteoglycans
that enable physical interactions and signalling between different neighbouring cells in …

The genetics of isolated and syndromic clubfoot

B Sadler, CA Gurnett… - Journal of children's …, 2019 - journals.sagepub.com
Purpose Congenital clubfoot is a serious birth defect that affects nearly 0.1% of all births.
Though there is strong evidence for a genetic basis of isolated clubfoot, aside from a handful …

Genetics and pathophysiology of mammalian sulfate biology

R Langford, E Hurrion, PA Dawson - Journal of Genetics and Genomics, 2017 - Elsevier
Nutrient sulfate is essential for numerous physiological functions in mammalian growth and
development. Accordingly, disruptions to any of the molecular processes that maintain the …

MTHFR and F5 genetic variations have association with preeclampsia in Pakistani patients: a case control study

FF Khidri, YM Waryah, FK Ali, H Shaikh, ID Ujjan… - BMC medical …, 2019 - Springer
Background To study the role of single nucleotide variants (SNVs) of genes related to
preeclampsia in Pakistani pregnant women. Methods After ethical approval and getting …

Association of MSX1 Gene Variants with Nonsyndromic Cleft Lip and/or Palate in the Pakistani Population

A Memon, FF Khidri, YM Waryah… - The Cleft Palate …, 2024 - journals.sagepub.com
Objectives This study investigated the association of MSX1 gene variants rs3821949 and
rs12532 with nonsyndromic cleft lip and/or palate (NSCL/P) in the Pakistani population …

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 …

Serum and salivary Cu/Zn ratio as a diagnostic biomarker for oral submucosal fibrosis: an analysis of trace metals and LOX gene variants

R Shah, FF Khidri, YM Waryah, R Nigar, A Mahmood… - BioMetals, 2024 - Springer
This study aimed to analyze the serum and salivary levels of copper (Cu), zinc (Zn), iron
(Fe), chromium (Cr), manganese (Mn) and the Cu/Zn ratio and investigate the association …

CHST3‐related skeletal dysplasia in 14 patients: Identification of 8 novel variants and further expansion of the phenotypic spectrum

GA Otaify, RM Elhossini… - American Journal of …, 2023 - Wiley Online Library
Biallelic variants in CHST3 gene result in congenital dislocation of large joints, club feet,
short stature, rhizomelia, kypho‐scoliosis, platyspondyly, epiphyseal dysplasia, flared …

Carbohydrate sulfotransferases in glycosaminoglycan biosynthesis

D Barone, L Joshi, M Kilcoyne - Translational Glycobiology in Human …, 2024 - Elsevier
Sulfation is an essential posttranslational modification that involves the covalent attachment
of sulfate groups to the hydroxyl or amine group of the acceptor molecule. This modification …