Results 131 to 140 of about 23,098 (204)

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

Epileptic Disorders, Volume 28, Issue 4, Page 1281-1284, August 2026.
Matthew A. Hintermayer, Kenneth A. Myers
wiley   +1 more source

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

Clinical Endocrinology, Volume 105, Issue 2, Page 197-204, August 2026.
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

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

International Journal of Laboratory Hematology, Volume 48, Issue 4, Page 856-865, August 2026.
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

14‐3‐3 proteins: Central hubs in plant development and stress adaptation

Journal of Integrative Plant Biology, Volume 68, Issue 8, Page 3107-3132, August 2026.
This review highlights recent advances elucidating the important roles of 14‐3‐3 proteins in regulating phytohormone networks, biotic and abiotic stress tolerance, growth‐defense trade‐offs, and evolutionary adaptations. Furthermore, it provides a forward‐looking perspective on 14‐3‐3 biology and the development of climate‐resilient smart crops under ...
Jiale Yuan, Qizhang Wang, Jing Cao, Furong Wang, Hua Zhou, Jigang Li, Fang Lin   +6 more
wiley   +1 more source

Designed Ankyrin Repeat Proteins as a tool box for analyzing p63. [PDF]

Cell Death Differ, 2022
Strubel A, Münick P, Chaikuad A, Dreier B, Schaefer J, Gebel J, Osterburg C, Tuppi M, Schäfer B, Knapp S, Plückthun A, Dötsch V.   +11 more
europepmc   +1 more source

Huntington's disease-associated ankyrin repeat palmitoyl transferases are rate-limiting factors in lysosome formation and fusion. [PDF]

PLoS Genet
Szenci G, Boda A, Nagy A, Károlyi D, Rubics A, Szőke Z, Falcsik G, Kovács T, Lőrincz P, Juhász G, Takáts S.   +10 more
europepmc   +1 more source

Transport of Designed Ankyrin Repeat Proteins through reconstituted human bronchial epithelia and protection against SARS-CoV-2. [PDF]

Sci Rep, 2023
Künzi L, Ryter S, Cornelius A, Leni Z, Baumlin N, Salathe M, Walser M, Engler O, Geiser M.   +8 more
europepmc   +1 more source

Profiling the TRPV4 ankyrin repeat domain interactome and its disruption by neuromuscular disease-causing mutations. [PDF]

J Biol Chem
Loder AK, Kosmanopoulos GP, Aisenberg WH, Cox E, Meeker AR, Blackshaw S, Gaudet R, Hellmich UA, McCray BA, Sumner CJ, Sullivan JM.   +10 more
europepmc   +1 more source

Expression of SH3 and Multiple Ankyrin Repeat Domains Protein 3 in Mouse Retina. [PDF]

Front Cell Neurosci, 2022
Xu Y, Wang Y, Tong G, Li L, Cheng J, Zhang L, Xu Q, Wang L, Zhang P.   +8 more
europepmc   +1 more source

Distinct ankyrin repeat subdomains control VAPYRIN locations and intracellular accommodation functions during arbuscular mycorrhizal symbiosis. [PDF]

Nat Commun, 2022
Lindsay PL, Ivanov S, Pumplin N, Zhang X, Harrison MJ.   +4 more
europepmc   +1 more source