Results 71 to 80 of about 1,239 (147)

Evaluation of Efficacy of Long-term Growth Hormone Therapy in Patients with Hypochondroplasia

, 2018
Hypochondroplasia is a cause of disproportionate short stature and characterized by minor clinical manifestations. The aim of this study was to evaluate the efficacy of long-term growth hormone (GH) therapy in hypochondroplastic cases with inadequate ...
Çetin, Tuğba
core   +1 more source

Clinical hypochondroplasia in a family caused by a heterozygous double mutation in FGFR3 encoding GLY380LYS.

, 2007
In classical achondroplasia (Ach), a glycine residue is replaced by an arginine at codon 380 in exon 10 of the fibroblast growth factor receptor 3 gene (FGFR3).
Almeida, M, Helena Fernandes, Andrew Wilkie, Fernandes, H, Wilkie, A, Maria Almeida, Wilkie, AO, Santos, HG, Heloísa G. Santos   +8 more
core   +1 more source

FETAL ULTRASOUND ANATOMY AND MORPHOMETRIC PARAMETERS OF THE ULNA AND RADIUS IN FETUSES OF 19-22 WEEKS OF GESTATION

Неонатологія, хірургія та перинатальна медицина
Assessment of the length of the long tubular bones of the fetus, including the ulna and radius, is used in modern fetal anatomy and to estimate the gestational age of the fetus.
О. Коваль, Т. Хмара, І. Заморський, А. Ходан, М. Кривчанська   +4 more
doaj   +1 more source

Height outcome of short children with hypochondroplasia after recombinant human growth hormone treatment: a meta-analysis

, 2015
Hypochondroplasia (HCH) is a genetic skeletal dysplasia, characterized by rhizomelic short height (Ht) with facial dysmorphology and lumbar hyperlordosis.
Bertelloni, Silvano, Massart, Francesco, MICCOLI, MARIO, BAGGIANI, ANGELO   +3 more
core   +1 more source

HK1–LDHA axis feedback regulation promotes histone lactylation of Wnt5a and mediates prenatal acetaminophen-induced susceptibility to osteoarthritis in male offspring

Experimental and Molecular Medicine
Acetaminophen is widely used during pregnancy but may cause developmental abnormalities in multiple systems in offspring. However, the effects of prenatal acetaminophen exposure (PAcE) on chondrodevelopment and long-term outcomes remain unclear.
Fan Zhang, Qingxian Li, Xiaoxiang Sun, Yu Guo, Hui Wang, Liaobin Chen   +5 more
doaj   +1 more source

Cephalometric Evaluation of Children with Short Stature of Genetic Etiology: A Review

Children
Introduction: A plethora of biological molecules regulate chondrogenesis in the epiphyseal growth plate. Disruptions of the quantity and function of these molecules can manifest clinically as stature abnormalities of various etiologies.
George Paltoglou, Nickolas Ziakas, George P. Chrousos, Christos Yapijakis   +3 more
doaj   +1 more source

TYRA-300, an FGFR3-selective inhibitor, promotes bone growth in two FGFR3-driven models of chondrodysplasia

JCI Insight
Achondroplasia (ACH) and hypochondroplasia (HCH), the two most common types of dwarfism, are each caused by FGFR3 gain-of-function mutations that result in increased FGFR3 signaling, which disrupts chondrogenesis and osteogenesis, resulting in ...
Jacqueline H. Starrett, Clara Lemoine, Matthias Guillo, Chantal Fayad, Nabil Kaci, Melissa Neal, Emily A. Pettitt, Melissandre Pache, Qing Ye, My Chouinard, Eric L. Allen, Geneviève Baujat, Robert L. Hudkins, Michael B. Bober, Todd Harris, Ronald V. Swanson, Laurence Legeai-Mallet   +16 more
doaj   +1 more source

第三號纖母細胞成長因子受體基因突變引起的骨酪異化症 [PDF]

, 2012
[[abstract]]Background. The identification of a missense mutation (G380R) in the fibroblast growth factor receptor 3 (FGFR3) gene in patients with achondroplasia was followed by the detection of common FGFR3 mutations in two clinically related ...
Tsai, F. J. ; Lee, C. C. ; Wu, J. Y. ; Yang, T. Y. ; Wang, Nancy M. ; Yang, C. F. ; Peng, C. T. ; Tsai, C. H.
core  

Fracture healing of the mandible is impaired in a Fgfr3N534K/+ mouse model of hypochondroplasia

Bone Reports, 2021
Anne Morice, Loisay Lea, Laurence Legeai Mallet   +2 more
doaj   +1 more source

Fgfr3 gain-of-function mutation impacts bone homeostasis in hypochondroplasia mouse model

Bone Reports, 2020
Léa Loisay, Davide Komla Ebri, Nabil Kaci, J.H. Duncan Bassett, Graham R. Williams, Laurence Legeai Mallet   +5 more
doaj   +1 more source