Calcineurin in the heart: New horizons for an old friend

M Chaklader, BA Rothermel - Cellular signalling, 2021 - Elsevier
Calcineurin, also known as PP2B or PPP3, is a member of the PPP family of protein
phosphatases that also includes PP1 and PP2A. Together these three phosphatases …

Genetic Alterations of Transcription Factors and Signaling Molecules Involved in the Development of Congenital Heart Defects—A Narrative Review

AC Bolunduț, C Lazea, CM Mihu - Children, 2023 - mdpi.com
Congenital heart defects (CHD) are the most common congenital abnormality, with an
overall global birth prevalence of 9.41 per 1000 live births. The etiology of CHDs is complex …

The ER protein Creld regulates ER-mitochondria contact dynamics and respiratory complex 1 activity

M Paradis, N Kucharowski, G Edwards Faret… - Science …, 2022 - science.org
Dynamic contacts are formed between endoplasmic reticulum (ER) and mitochondria that
enable the exchange of calcium and phospholipids. Disturbed contacts between ER and …

CRELD1 variants are associated with bicuspid aortic valve in Turner syndrome

CT Pinnaro, CB Beck, HJ Major, BW Darbro - Human genetics, 2023 - Springer
Turner syndrome (TS) is a chromosomal disorder caused by complete or partial loss of the
second sex chromosome and exhibits phenotypic heterogeneity, even after accounting for …

Creld2 function during unfolded protein response is essential for liver metabolism homeostasis

P Kern, NR Balzer, F Bender, A Frolov, K Wunderling… - bioRxiv, 2020 - biorxiv.org
The unfolded protein response (UPR) is associated with the hepatic metabolic function, yet it
is not well understood how endoplasmic reticulum (ER) disturbance might influence …

[HTML][HTML] Polymorphisms of CRELD1 and DNAJC30 and their relationship with chicken carcass traits

Z Zhou, D Cai, G Wei, B Cai, S Kong, M Ma, J Zhang… - Poultry Science, 2023 - Elsevier
Carcass traits play important roles in the broiler industry and single nucleotide
polymorphism (SNP) can be efficient molecular markers for marker-assisted breeding of …

CRELD2, endoplasmic reticulum stress, and human diseases

Q Tang, Q Liu, Y Li, L Mo, J He - Frontiers in Endocrinology, 2023 - frontiersin.org
CRELD2, a member of the cysteine-rich epidermal growth factor-like domain (CRELD)
protein family, is both an endoplasmic reticulum (ER)-resident protein and a secretory factor …

Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections

L Jeffries, EK Mis, K McWalter, S Donkervoort… - Genetics in …, 2024 - Elsevier
Purpose We sought to delineate a multisystem disorder caused by recessive cysteine-rich
with epidermal growth factor–like domains 1 (CRELD1) gene variants. Methods The impact …

Functions of cilia in cardiac development and disease

WM Shaikh Qureshi, KE Hentges - Annals of Human Genetics, 2024 - Wiley Online Library
Errors in embryonic cardiac development are a leading cause of congenital heart defects
(CHDs), including morphological abnormalities of the heart that are often detected after birth …

Expression of CRELD2 in mouse tissues

C Fuqiang, W Shuna, W Dongsheng… - 药学实践与服务, 2022 - yxsj.smmu.edu.cn
Objective To explore the expression of CRELD2 at the gene and protein levels of mouse
tissues, and to provide a reference for studying the biological function of CRELD2 in various …