The congenital and acquired mechanisms implicated in the etiology of central precocious puberty

VN Brito, APM Canton, CE Seraphim… - Endocrine …, 2023 - academic.oup.com
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 …

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 …

[HTML][HTML] Genome-wide associations of aortic distensibility suggest causality for aortic aneurysms and brain white matter hyperintensities

CM Francis, ME Futschik, J Huang, W Bai… - Nature …, 2022 - nature.com
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 …

[HTML][HTML] Current mechanistic understandings of lymphedema and lipedema: tales of fluid, fat, and fibrosis

BH Duhon, TT Phan, SL Taylor, RL Crescenzi… - International Journal of …, 2022 - mdpi.com
Lymphedema and lipedema are complex diseases. While the external presentation of
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 …

[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 …

[HTML][HTML] JAGGED1/NOTCH3 activation promotes aortic hypermuscularization and stenosis in elastin deficiency

JM Dave, R Chakraborty, A Ntokou… - The Journal of …, 2022 - Am Soc Clin Investig
Obstructive arterial diseases, including supravalvular aortic stenosis (SVAS),
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 …

[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 …

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 …