Results 191 to 200 of about 31,078 (242)

Novel Truncating Variant c.1222DupC in <i>RBM20</i> Causes Cardiomyopathy Consistent With Haploinsufficiency. [PDF]

Circ Genom Precis Med
Pant P, Huang Y, Ghouse Z, Bai F, Kemmling E, Konrad L, Alameldeen A, Kistler R, Seeger T, Gotthardt M, Parikh VN, van den Hoogenhof MMG.   +11 more
europepmc   +1 more source

A novel <i>de novo ATP2B1</i> variant causes autosomal dominant intellectual developmental disorder 66 by disrupting calcium homeostasis via impaired membrane trafficking. [PDF]

Exp Biol Med (Maywood)
Zang H, Yang X, Liu Y, Ma C, Yang D.
europepmc   +1 more source

Keeping it centered: decoding the activities that regulate yeast histone H3 variant Cse4 and confine it to centromeres. [PDF]

Front Cell Dev Biol
Greco M, Klim J, De Wulf P.
europepmc   +1 more source

Lymphoplasmacytic Gastritis in Cheetahs Under Human Care: A Bile Acid-Driven Gastroenteropathy Arising from Disrupted Feeding Ecology. [PDF]

Animals (Basel)
Tordiffe ASW.
europepmc   +1 more source

Heat stress induces organelle alterations in Macrocystis pyrifera gametophytes. [PDF]

J Phycol
Harden M, Koos DS, Arzuyan K, Kovalev M, Lansford R, Alberto F, Nuzhdin S.   +6 more
europepmc   +1 more source

Nucleocytoplasmic mRNA redistribution accompanies RNA binding protein mislocalization in ALS motor neurons and is restored by VCP ATPase inhibition [PDF]

Neuron, 2023
Amyotrophic lateral sclerosis (ALS) is characterized by nucleocytoplasmic mislocalization of the RNA-binding protein (RBP) TDP-43. However, emerging evidence suggests more widespread mRNA and protein mislocalization.
Giulia E Tyzack, Jacob Neeves, Gavin Kelly   +2 more
exaly   +4 more sources