[HTML][HTML] Functional diversification of SRSF protein kinase to control ubiquitin-dependent neurodevelopmental signaling

F Bustos, A Segarra-Fas, G Nardocci, A Cassidy… - Developmental cell, 2020 - cell.com
Conserved protein kinases with core cellular functions have been frequently redeployed
during metazoan evolution to regulate specialized developmental processes. The Ser/Arg …

Genome‐wide association study of inhaled corticosteroid response in admixed children with asthma

N Hernandez‐Pacheco, N Farzan… - Clinical & …, 2019 - Wiley Online Library
Background Inhaled corticosteroids (ICS) are the most widely prescribed and effective
medication to control asthma symptoms and exacerbations. However, many children still …

Unsupervised ensemble-based phenotyping enhances discoverability of genes related to left-ventricular morphology

R Bonazzola, E Ferrante, N Ravikumar, Y Xia… - Nature Machine …, 2024 - nature.com
Recent genome-wide association studies have successfully identified associations between
genetic variants and simple cardiac morphological parameters derived from cardiac …

[HTML][HTML] Mef2a is a positive regulator of Col10a1 gene expression during chondrocyte maturation

C Chen, X Wu, T Han, J Chen, H Bian… - American Journal of …, 2023 - ncbi.nlm.nih.gov
Background: The type X collagen gene (Col10a1) is a signature gene of hypertrophic
chondrocytes that are known as the main engine of long bone growth. Multiple transcription …

Joint multi-ancestry and admixed GWAS reveals the complex genetics behind human cranial vault shape

S Goovaerts, H Hoskens, RJ Eller, N Herrick… - Nature …, 2023 - nature.com
The cranial vault in humans is highly variable, clinically relevant, and heritable, yet its
genetic architecture remains poorly understood. Here, we conduct a joint multi-ancestry and …

Cranium growth, patterning and homeostasis

PS Ang, MJ Matrongolo, ML Zietowski… - …, 2022 - journals.biologists.com
Craniofacial development requires precise spatiotemporal regulation of multiple signaling
pathways that crosstalk to coordinate the growth and patterning of the skull with surrounding …

Interrater and intrarater reliability of cranial anthropometric measurements in infants with positional plagiocephaly

I Pastor-Pons, MO Lucha-López, M Barrau-Lalmolda… - Children, 2020 - mdpi.com
(1) Background: anthropometric measurements with calipers are used to objectify cranial
asymmetry in positional plagiocephaly but there is controversy regarding the reliability of …

Global patterns of the cranial form of modern human populations described by analysis of a 3D surface homologous model

H Matsumura, T Tanijiri, M Kouchi, T Hanihara… - Scientific Reports, 2022 - nature.com
This study assessed the regional diversity of the human cranial form by using geometric
homologous models based on scanned data from 148 ethnic groups worldwide. This …

Relationship of COL9A1 and SOX9 Genes with Genetic Susceptibility of Postmenopausal Osteoporosis

H Liu, H Zhao, H Lin, Z Li, H Xue, Y Zhang… - Calcified Tissue …, 2020 - Springer
As one of the most common types of osteoporosis, postmenopausal osteoporosis (PMOP) is
caused by both genetic and environmental factors. Previous studies have indicated that …

Identification of 4 new loci associated With Primary Hyperparathyroidism (PHPT) and a Polygenic risk score for PHPT

E Soto-Pedre, PJ Newey, S Srinivasan… - The Journal of …, 2022 - academic.oup.com
Context A hypothesis-free genetic association analysis has not been reported for patients
with primary hyperparathyroidism (PHPT). Objective We aimed to investigate genetic …