Results 61 to 70 of about 1,239 (147)

A monoallelic UXS1 variant associated with short‐limbed short stature

Molecular Genetics &Genomic Medicine, Volume 12, Issue 6, June 2024.
This is the first described family where a likely pathogenic variant in UXS1 causes short stature and metaphyseal changes through impaired glycosaminoglycan biosynthesis. Abstract Background Serine residues in the protein backbone of heavily glycosylated proteoglycans are bound to glycosaminoglycans through a tetrasaccharide linker.
Cecilie F. Rustad, Paul Hoff Backe, Chunsheng Jin, Else Merckoll, Kristian Tveten, Marissa Lucy Maciej‐Hulme, Niclas Karlsson, Trine Prescott, Elise Sandås Sand, Berit Woldseth, Katja Benedikte Prestø Elgstøen, Øystein L. Holla   +11 more
wiley   +1 more source

Achondroplasia and hypochondroplasia. Clinical variation and spinal stenosis

, 1981
Forty-eight patients with achondroplasia and 24 with hypochondroplasia have been reviewed in order to clarify the differences between the two disorders and establish the height, body proportions and other clinical and radiological variations within each
R Wynne-Davies, WK Walsh, J Gormley
core   +1 more source

Identification and in silico characterization of p.G380R substitution in FGFR3, associated with achondroplasia in a non-consanguineous Pakistani family

Diagnostic Pathology, 2017
Background The dimerization efficiency of FGFR3 transmembrane domain plays a critical role in the formation of a normal skeleton through the negative regulation of bone development.
Muhammad Ajmal, Asif Mir, Muhammad Shoaib, Salman Akbar Malik, Muhammad Nasir   +4 more
doaj   +1 more source

ERF-Related Craniosynostosis in a Patient With Hypochondroplasia: A Case Report

We report a case of multiple suture craniosynostosis in a patient with hypochondroplasia. The patient presented with short stature marked by a relatively long trunk and short extremities.
ŞİMŞEK KİPER, PELİN ÖZLEM, SOĞUKPINAR, MERVE, KARAOSMANOĞLU, BEREN, GÖÇMEN, RAHŞAN, JUMAYEVA, GOZEL, ÜREL DEMİR, GİZEM, ÜTİNE, GÜLEN EDA   +6 more
core   +1 more source

Metacarpophalangeal pattern profile analysis in hypochondroplasia, dyschondrosteosis and Turner syndrome

, 2004
The skeletal system, including the hand skeleton, is affected by a large number of skeletal dysplasias. Clinical and radiological abnormalities of the skeletal system in hypochondroplasia (HCP), dyschondrosteosis (LWD) and Turner syndrome (TS) may be ...
Evaldas Laurencikas (3423929)
core   +1 more source

Poster Session 1

Pregnancy, Volume 2, Issue S2, September 2026.
wiley   +1 more source

Generation of Fgfr3 Conditional Knockout Mice

International Journal of Biological Sciences, 2010
Fibroblast growth factor receptor 3 (FGFR3), highly conserved in both humans and murine, is one of key tyrosine kinase receptors for FGF. FGFR3 is expressed in different tissues, including cartilage, brain, kidney, and intestine at different development ...
Nan Su, Xiaoling Xu, Cuiling Li, Qifen He, Ling Zhao, Can Li, Siyu Chen, Fengtao Luo, Lingxian Yi, Xiaolan Du, Haiyang Huang, Chuxia Deng, Lin Chen
doaj  

FGFR antagonists restore defective mandibular bone repair in a mouse model of osteochondrodysplasia

Bone Research
Gain-of-function mutations in fibroblast growth factor receptor (FGFR) genes lead to chondrodysplasia and craniosynostoses. FGFR signaling has a key role in the formation and repair of the craniofacial skeleton. Here, we analyzed the impact of Fgfr2- and
Anne Morice, Amélie de La Seiglière, Alexia Kany, Roman H. Khonsari, Morad Bensidhoum, Maria-Emilia Puig-Lombardi, Laurence Legeai Mallet   +6 more
doaj   +1 more source

Emerging NPR-B agonists for cartilage and bone: from CNP biology to translational compound design

Frontiers in Chemistry
Disorders affecting cartilage and bone development frequently originate from disrupted endochondral ossification within growth-plate cartilage. Nonetheless, few therapeutic interventions directly target the local signaling pathways governing this process.
Yasuhiko Ago, Yasuhiko Ago, Amali Karunathilaka, Amali Karunathilaka, Jacky M. Guerrero-Vargas, Jacky M. Guerrero-Vargas, Shunji Tomatsu, Shunji Tomatsu   +7 more
doaj   +1 more source

Mutations in short stature homeobox containing gene (SHOX) in dyschondrosteosis but not in hypochondroplasia

, 2000
Dyschondrosteosis (DCO) and hypochondroplasia (HCH) are common skeletal dysplasias characterized by disproportionate short stature. The diagnosis of these conditions might be difficult to establish especially in early childhood.
Hagenäs, Lars, Kedra, Darek, Eklöf, Ole, Grigelioniene, Giedre, Westphal, Otto, Neumeyer, Lo, Dumanski, Jan,, Ivarsson, Sten Anders   +7 more
core   +1 more source