11 citations
,
January 2018 in “Royal Society Open Science” This study investigated the formation of Type III brush hair in Chinese Haimen goats and identified genetic factors that may involve heat stress in the process.
5 citations
,
October 2021 in “American Journal of Medical Genetics Part A” This case report identifies a novel maternally inherited MBTPS2 variant associated with an expanded phenotypic spectrum of BRESHECK syndrome, including cytopenias, bone marrow fibrosis, and chronic diarrhea.
12 citations
,
February 2021 in “Translational Psychiatry” This study identified two novel genetic variants associated with Alzheimer's disease in APOE ε4 non-carriers, revealing insights into the disease's underlying regulatory mechanisms.
June 2023 in “Biochimica and biophysica acta. Molecular and cell biology of lipids” In this study, researchers found that knockdown of ABCA5 in primary human hair follicle keratinocytes disrupted cholesterol homeostasis and transportation, suggesting its potential role in hair growth disorders by affecting intracellular cholesterol compartmentalization and LXR-mediated transcriptional activity.
13 citations
,
November 2017 in “Journal of Cellular and Molecular Medicine” This workshop reviewed various roles of endoplasmic reticulum chaperones, including calreticulin, in cellular signaling, disease states, and potential markers, but reports no new experimental findings.