Results 111 to 120 of about 41,338 (239)

Asparagine β-hydroxylation stabilizes the ankyrin repeat domain fold

Mol. BioSyst., 2009
Ankyrin repeats (ARs) are one of the most common structural motifs among eukaryotic proteins. Recent analyses have shown that factor inhibiting hypoxia-inducible factor (FIH) catalyses the hydroxylation of highly conserved Asn-residues within ankyrin repeat domains (ARDs). However, the effect of Asn-hydroxylation on ARD structure is unknown. Supporting
Kelly, L, McDonough, M, Coleman, M, Ratcliffe, P, Schofield, C   +4 more
openaire   +2 more sources

De novo TANC2 stop‐loss variant associated with developmental impairment and drug‐resistant epilepsy

Epileptic Disorders, EarlyView.
Matthew A. Hintermayer, Kenneth A. Myers
wiley   +1 more source

Transient Hyperparathyroidism and Severe Intrauterine Osteopenia Linked to Novel Homozygous TRPV6 Deletion

Clinical Endocrinology, EarlyView.
ABSTRACT Context Placental calcium (Ca2+) transport is essential for foetal bone mineralisation and development, as well as for Ca2+ homoeostasis. Rare mutations in transient receptor potential vanilloid (TRPV) 6 of the infant cause insufficient maternal‐foetal Ca2+ transport through the placenta.
Teodora Grigore, Quinty Leusink, Femke Latta, Bram van der Eerden, Paul de Laat, Danielle van der Kaay, Joost Hoenderop   +6 more
wiley   +1 more source

Interactome of the Autoimmune Risk Protein ANKRD55

Frontiers in Immunology, 2019
The ankyrin repeat domain-55 (ANKRD55) gene contains intronic single nucleotide polymorphisms (SNPs) associated with risk to contract multiple sclerosis, rheumatoid arthritis or other autoimmune disorders.
Nerea Ugidos, Nerea Ugidos, Jorge Mena, Jorge Mena, Sara Baquero, Sara Baquero, Iraide Alloza, Iraide Alloza, Mikel Azkargorta, Felix Elortza, Koen Vandenbroeck, Koen Vandenbroeck, Koen Vandenbroeck   +12 more
doaj   +1 more source

Functional Data Strengthen Clinical Validation of PhenoScore Phenotype‐Guided AI for ANKRD11 Missense Variants

Clinical Genetics, EarlyView.
PhenoScore, an AI framework integrating facial recognition and clinical phenotype data, accurately identifies pathogenic ANKRD11 missense variants associated with KBG syndrome (AUC 0.95). Validated against functional data, PhenoScore outperforms REVEL and complements AlphaMissense, providing objective phenotypic evidence to reduce variants of uncertain
Evi Andriessen, Elke de Boer, Gholson J. Lyon, Bert B. A. de Vries, Charlotte W. Ockeloen, Alexander J. M. Dingemans   +5 more
wiley   +1 more source

The Rickettsial Ankyrin Repeat Protein 2 Is a Type IV Secreted Effector That Associates with the Endoplasmic Reticulum

mBio, 2018
Strains of Rickettsia rickettsii, the tick-borne agent of Rocky Mountain spotted fever, vary considerably in virulence. Genomic comparisons of R. rickettsii strains have identified a relatively small number of genes divergent in an avirulent strain ...
Stephanie S. Lehman, Nicholas F. Noriea, Karin Aistleitner, Tina R. Clark, Cheryl A. Dooley, Vinod Nair, Simran Jeet Kaur, M. Sayeedur Rahman, Joseph J. Gillespie, Abdu F. Azad, Ted Hackstadt   +10 more
doaj   +1 more source

Clinical and Genetic Characterization of 269 Patients With Suspected Inherited Platelet Disorders: The Padua Monocentric Experience

International Journal of Laboratory Hematology, EarlyView.
ABSTRACT Background Inherited platelet disorders (IPDs) are rare hematologic conditions encompassing a heterogeneous spectrum of quantitative and qualitative platelet defects, frequently associated with variable clinical phenotypes and comorbidities. Accurate diagnosis necessitates comprehensive genetic characterization, detailed clinical and bleeding ...
Silvia Ferrari, Daniela Regazzo, Antonella Bertomoro, Anna Cerbo, Alessandro Galbiati, Elisabetta Cosi, Paolo Simioni   +6 more
wiley   +1 more source

Genomic Analysis of Inbreeding Depression on Productive Traits in Rubia Galega Beef Cattle Breed

Journal of Animal Breeding and Genetics, EarlyView.
ABSTRACT In autochthonous livestock breeds with small populations, such as the Rubia Galega from Galicia (Spain), mating between relatives is common and can lead to inbreeding depression. Genomic inbreeding coefficients were estimated for 4984 animals using ~63,000 SNPs to assess inbreeding depression in four key traits: age at first calving (AFC) with
N. Mejuto‐Vázquez, C. Hervás‐Rivero, R. Rodríguez‐Bermúdez, D. López‐Carbonell, M. Hermida, P. Martínez, L. Varona   +6 more
wiley   +1 more source

Proteomic analysis of the zone of degeneration at the mitosis–meiosis transition stage in wild‐caught male catshark (Scyliorhinus canicula), correlated with an unusually high‐water temperature in the English Channel

Journal of Fish Biology, EarlyView.
Abstract In the context of current global change, variations in water temperature are one of the environmental conditions with serious consequences for marine life, including reproductive processes. In the small spotted catshark Scyliorhinus canicula, spermatogenesis occurs in spermatocysts composed of synchronously developing germ cells associated ...
Fabian Jeanne, Stanislas Pilet, Sean Heighton, Benoît Bernay, Pascal Sourdaine   +4 more
wiley   +1 more source

ANKRD9 negatively regulates chicken myogenesis through ubiquitin-mediated regulation of IMPDH2

Poultry Science
Skeletal muscle development is regulated by transcriptional and post-translational mechanisms. While ankyrin repeat proteins participate in post-translational modifications, their role in myogenesis remains unclear.
Yuanfang Li, Pengtao Yuan, Jing Wang, Shuaihao Li, Bin Zhai, Hongtai Li, Zhilei Li, Lanya Wang, Yujie Guo, Wei Wang, Yanhua Zhang, Shuangli Zhu, Yingying Liu, Zhuanjian Li, Yadong Tian, Xiangtao Kang, Yadong Wang, Guoxi Li   +17 more
doaj   +1 more source