The congenital and acquired mechanisms implicated in the etiology of central precocious puberty
The etiology of central precocious puberty (CPP) is multiple and heterogeneous, including
congenital and acquired causes that can be associated with structural or functional brain …
congenital and acquired causes that can be associated with structural or functional brain …
Williams syndrome
CA Morris, CB Mervis - Cassidy and Allanson's Management of …, 2021 - Wiley Online Library
Williams syndrome has been variably termed Williams–Beuren syndrome, idiopathic
hypercalcemia, and supravalvar aortic stenosis syndrome. It is estimated to occur in …
hypercalcemia, and supravalvar aortic stenosis syndrome. It is estimated to occur in …
[HTML][HTML] Genome-wide associations of aortic distensibility suggest causality for aortic aneurysms and brain white matter hyperintensities
Aortic dimensions and distensibility are key risk factors for aortic aneurysms and dissections,
as well as for other cardiovascular and cerebrovascular diseases. We present genome-wide …
as well as for other cardiovascular and cerebrovascular diseases. We present genome-wide …
[HTML][HTML] Current mechanistic understandings of lymphedema and lipedema: tales of fluid, fat, and fibrosis
Lymphedema and lipedema are complex diseases. While the external presentation of
swollen legs in lower-extremity lymphedema and lipedema appear similar, current …
swollen legs in lower-extremity lymphedema and lipedema appear similar, current …
[HTML][HTML] The interaction between the nervous system and the stomatognathic system: from development to diseases
Y Wu, Y Lan, J Mao, J Shen, T Kang… - International Journal of …, 2023 - nature.com
The crosstalk between the nerve and stomatognathic systems plays a more important role in
organismal health than previously appreciated with the presence of emerging concept of the …
organismal health than previously appreciated with the presence of emerging concept of the …
[HTML][HTML] LIM kinases, LIMK1 and LIMK2, are crucial node actors of the cell fate: molecular to pathological features
E Villalonga, C Mosrin, T Normand, C Girardin… - Cells, 2023 - mdpi.com
LIM kinase 1 (LIMK1) and LIM kinase 2 (LIMK2) are serine/threonine and tyrosine kinases
and the only two members of the LIM kinase family. They play a crucial role in the regulation …
and the only two members of the LIM kinase family. They play a crucial role in the regulation …
[HTML][HTML] JAGGED1/NOTCH3 activation promotes aortic hypermuscularization and stenosis in elastin deficiency
Obstructive arterial diseases, including supravalvular aortic stenosis (SVAS),
atherosclerosis, and restenosis, share 2 important features: an abnormal or disrupted elastic …
atherosclerosis, and restenosis, share 2 important features: an abnormal or disrupted elastic …
Effects of spike protein and toxin-like peptides found in COVID-19 patients on human 3D neuronal/glial model undergoing differentiation: Possible implications for …
F Pistollato, M Petrillo, LA Clerbaux, G Leoni… - Reproductive …, 2022 - Elsevier
The possible neurodevelopmental consequences of SARS-CoV-2 infection are presently
unknown. In utero exposure to SARS-CoV-2 has been hypothesized to affect the developing …
unknown. In utero exposure to SARS-CoV-2 has been hypothesized to affect the developing …
[HTML][HTML] baz1b loss-of-function in zebrafish produces phenotypic alterations consistent with the domestication syndrome
JV Torres-Pérez, S Anagianni, AM Mech, W Havelange… - Iscience, 2023 - cell.com
BAZ1B is a ubiquitously expressed nuclear protein with roles in chromatin remodeling, DNA
replication and repair, and transcription. Reduced BAZ1B expression disrupts neuronal and …
replication and repair, and transcription. Reduced BAZ1B expression disrupts neuronal and …
The genetics of neurodevelopment in congenital heart disease
E Patt, A Singhania, AE Roberts, SU Morton - Canadian Journal of …, 2023 - Elsevier
Congenital heart disease (CHD) is the most common birth anomaly, affecting almost 1% of
infants. Neurodevelopmental delay is the most common extracardiac feature in people with …
infants. Neurodevelopmental delay is the most common extracardiac feature in people with …