Results 211 to 220 of about 3,413,614 (250)

Optic nerve hypoplasia and septo‐optic‐pituitary dysplasia

Developmental Medicine &Child Neurology, EarlyView.
Optic nerve hypoplasia and septo‐optic‐pituitary dysplasia. Abstract The presence of a small optic disc on funduscopy is prerequisite for the diagnosis of optic nerve hypoplasia (ONH). Visual acuity may be normal. However, amblyopia can occur in ONH. A relative afferent pupillary light defect indicates unilateral or asymmetrical ONH.
Michael S. Salman
wiley   +1 more source

Short stature is an independent risk factor for ventilatory inefficiency and higher mortality in acute respiratory distress syndrome. [PDF]

Am J Respir Crit Care Med
Costa Monteiro AC, Bartek B, Tripathi S, Calfee CS, Matthay MA, Sinha P.   +5 more
europepmc   +1 more source

Multisystem developmental abnormalities and insulin resistance in ADTKD‐HNF1B with the p.E105K variant: A clinical conundrum

Diabetic Medicine, EarlyView.
Abstract Aims HNF1B variants cause autosomal dominant tubulointerstitial kidney disease (ADTKD‐HNF1B), but the phenotypic spectrum of variants of uncertain significance (VUS) remains incompletely defined. We aimed to characterise the multisystem phenotype associated with the HNF1B p.E105K variant and to examine the mechanism underlying insulin ...
YunZe Wang, KangChun Xu, PengFei Liu, Bin Wang, Yan Yang, ShanZhai Wei   +5 more
wiley   +1 more source

Serum osteocalcin as a novel biomarker for differentiating growth hormone deficiency from idiopathic short stature. [PDF]

Front Endocrinol (Lausanne)
Wang Y, Zhou H, Wang H, Ma J, Chen X, Yang H, Zheng H, Wang A.   +7 more
europepmc   +1 more source

GSK3α‐mediated regulation of the RNA demethylase fat mass and obesity‐associated protein (FTO) during murine spermatogenesis

The FEBS Journal, EarlyView.
FTO regulates mRNA stability and translational efficiency through its m6A‐demethylation activity. GSK3 functions as an upstream regulator of FTO, leading to its inhibition via phosphorylation. In male germ cells, FTO activity is kept in check by GSK3α.
Neha Choudhari, Budheswar Dehury, Rounak Roy, Radhakrishnan Periyasamy, Indrashis Bhattacharya, Mahesh Sahare, Srinivasan Vijayraghavan, Souvik Dey   +7 more
wiley   +1 more source

Associations between anthropometric measures and cardiovascular risk biomarkers in women with short stature. [PDF]

JRSM Cardiovasc Dis
Britto RPA, Silva-Neto LGR, Florêncio TMMT, Bueno NB, Clemente APG, Chagas LAD, Callado GY, Araujo Júnior E, Sawaya AL.   +8 more
europepmc   +1 more source

Newly identified human aminoacyl‐tRNA synthetase complex interacting multifunctional protein 2 (AIMP2) loss‐of‐function mutations cause neurodevelopmental defects linked to cell death in a zebrafish model

The FEBS Journal, EarlyView.
Human AIMP2 mutations lead to severe neurodevelopmental defects and brain atrophy. Using patient‐derived fibroblasts from two individuals, we show decreased AIMP2 protein levels and overall protein synthesis. In a zebrafish loss‐of‐function model, the lack of AIMP2 leads to an increase in cell death and results in smaller brains.
Patrick Mullen, Shenela Lakhani, Joshua Appelbaum, DéJenaé See, Pryce Patterson, Collin M. MacLeod, Alexandra George, Reza Maroofian, Margaret E. Ross, Christopher Francklyn, Alicia M. Ebert   +10 more
wiley   +1 more source

Adult Height After Growth Hormone and Aromatase Inhibitor Therapy for Short Stature due to <i>ACAN</i> Mutation. [PDF]

AACE Endocrinol Diabetes
Ruiz DL, Delano A, Quintos JB.
europepmc   +1 more source

RLIM‐associated neurodevelopmental disorders: From clinical spectrum to molecular mechanisms

The FEBS Journal, EarlyView.
RLIM (RNF12) is an E3 ubiquitin ligase essential for mammalian development. Loss‐of‐function variants cause Tønne–Kalscheuer syndrome, while duplications cause Xq13 duplication syndrome, highlighting RLIM dosage sensitivity. This review summarizes the genetics, clinical features, and molecular mechanisms of RLIM‐associated disorders, integrating ...
Madison Landon, Kyra Swildens, Vera M. Kalscheuer, Cristina Gontan, Francisco Bustos   +4 more
wiley   +1 more source

Lipocalin-2 levels in children with idiopathic short stature. [PDF]

Endocrine
Fisch-Shvalb N, Bar-Maisels M, Yackobovitch-Gavan M, Phillip M, Gat-Yablonski G.   +4 more
europepmc   +1 more source