Results 291 to 300 of about 343,976 (337)

Novel Intragenic Duplication of GATAD2B in a Patient With GAND

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The nucleosome remodeling and deacetylation (NuRD) complex is a major chromatin regulator and plays a critical role in regulating gene transcription, genome integrity, and cell cycle progression. Heterozygous variants in GATAD2B, a core NuRD component, have been reported to cause GATAD2B‐Associated Neurodevelopmental Disorder (GAND), an ...
Mari Mori, Steven Estes, Swetha Ramadesikan, Betsy Schmalz, Shayne Plourde, Maria E. Hernandez Gonzalez, Anthony R. Miller, Bimal P. Chaudhari, Richard K. Wilson, Daniel C. Koboldt   +9 more
wiley   +1 more source

Non‐RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim, Alexsandra Christianne Malaquias, Debora Romeo Bertola, Raissa Carneiro Rezende, Laurana De Polli Cellin, Lucas Vieira Lacerda Pires, Ana Maria Santillan‐Vasconez, Antônio Marcondes Lerario, Renata da Cunha Scalco, Alexander Augusto de Lima Jorge   +9 more
wiley   +1 more source

Correction to "Depletion of Fat Mass and Obesity-Associated Protein (FTO) Drives Heterochromatin Loss via Lysine Acetyltransferase 8 (KAT8)-Mediated Remodeling and Spacing Factor 1 (RSF1) Acetylation in Skin Aging". [PDF]

MedComm (2020)
europepmc   +1 more source

Acetic acid produced by <i>Staphylococcus epidermidis</i> remodels chromatin architecture and suppresses gene expression in <i>Malassezia restricta</i>. [PDF]

mBio
Lee JM, Yang HO, Tanizawa H, Noma K-i, Lee TK, Jung WH, Cho Y-J, Kim K-D.   +7 more
europepmc   +1 more source

Highly Stereoselective Gem‐Dimethylcyclopropanation of Allylic Alcohols Promoted by Alkylidene Titanocenes

Asian Journal of Organic Chemistry, EarlyView.
A novel methodology has been developed for the regio‐, chemo‐, and diastereoselective conversion of a broad scope of allylic alcohols into the corresponding gem‐dimethylcyclopropane derivatives. The cyclopropanation reaction proceeds under mild conditions, mediated through an alkylidene titanocene generated in situ from CpTi(IV)Cl3, Mg and 2,2 ...
José Manuel Botubol‐Ares, Natalia Castillo‐Ruiz, Isidro G. Collado, María Jesús Durán‐Peña, Rosario Hernández‐Galán   +4 more
wiley   +1 more source

Co-Regulation of Very Fast Chilling Treatment and the Follow-Up Storage Temperature on Meat Tenderness Through Glycolysis. [PDF]

Foods
Bai Y, Ren C, Wu S, Hou C, Li X, Zhang D.   +5 more
europepmc   +1 more source

Post-translational modifications in ovarian cancer: implications for immunotherapy: a mini-review. [PDF]

J Ovarian Res
Sun L, Guo YF, Duan CC, Chen C, Xiao L.
europepmc   +1 more source

ING5: multifaceted roles beyond tumor suppression in cellular physiology and disease. [PDF]

Epigenetics Chromatin
Liao J, Zhang X, Chen Z, Liao Y.
europepmc   +1 more source

The complex network of p300/CBP regulation: Interactions, posttranslational modifications, and therapeutic implications. [PDF]

J Biol Chem
Yazıcı E, McIntyre J.
europepmc   +1 more source

Acetylation of lysine 49 on Ctnnb1 drives naïve pluripotency in murine stem cells by modulating Nanog function. [PDF]

PNAS Nexus
Takehara T, Nakanishi M, Son R, Suemori H, Murakawa Y, Teramura T.   +5 more
europepmc   +1 more source