Results 41 to 50 of about 1,393 (149)

Humeroradial Synostosis: An Updated Classification and Differential Diagnosis Based on Genetic Aetiology. [PDF]

open access: yesClin Genet
The proposed updated classification of humeroradial synostosis is based on the molecular pathways of the genes involved: (1) chondrogenesis and osteogenesis; (2) limb development and patterning; (3) genome regulation. Thus, pathologies belonging to the same molecular type may have overlapping clinical phenotypes, helping to structure the diagnostic ...
Leduc F   +5 more
europepmc   +2 more sources

Blocking Lysine Crotonylation and Aerobic Glycolysis as Targeting Strategy Against mpox Virus Replication. [PDF]

open access: yesAdv Sci (Weinh)
Wei et al. report that MPXV infection induces aerobic glycolysis, a process mediated by the viral protein I3 through lysine crotonylation at its K102 residue. The acetyltransferase MYST1 catalyzes the crotonylation of I3 to inhibit the ubiquitin‐mediated degradation of WDR26.
Wei P   +12 more
europepmc   +2 more sources

METTL16 and YTHDC1 Regulate Spermatogonial Differentiation via m6A. [PDF]

open access: yesCell Prolif
The deletion of either Mettl16 or Ythdc1 with Stra8‐Cre disrupted the gene expression related to chromosome organisation and segregation, resulting in aberrant differentiation of spermatogonia and male infertility. ABSTRACT Spermatogenesis is a highly unique and intricate process, finely regulated at multiple levels, including post‐transcriptional ...
Gu X   +6 more
europepmc   +2 more sources

Meiotic sex chromosome cohesion and autosomal synapsis are supported byEsco2 [PDF]

open access: yesLife Science Alliance, 2020
In mitotic cells, establishment of sister chromatid cohesion requires acetylation of the cohesin subunit SMC3 (acSMC3) by ESCO1 and/or ESCO2. Meiotic cohesin plays additional but poorly understood roles in the formation of chromosome axial elements (AEs) and synaptonemal complexes. Here, we show that levels of ESCO2, acSMC3, and the pro-cohesion factor
François McNicoll   +6 more
openaire   +3 more sources

Interpretable Differential Abundance Signature (iDAS). [PDF]

open access: yesSmall Methods
iDAS is an ANOVA‐based framework that enhances the interpretability of differential abundance signatures in single‐cell and spatial omics data. It provides a coherent and interpretable framework for grouping gene‐level associations in complex experimental designs.
Yu L, Lin Y, Xu X, Yang P, Yang JYH.
europepmc   +2 more sources

The non-redundant function of cohesin acetyltransferase Esco2 [PDF]

open access: yesNucleus, 2012
Cohesin and cohesin regulatory proteins function in an essential pathway enabling proper cohesion and segregation of sister chromatids. Additionally, these proteins are involved in double-strand break (DSB) repair and transcriptional regulation.
Whelan, G.   +3 more
openaire   +3 more sources

Esco2 regulates cx43 expression during skeletal regeneration in the zebrafish fin [PDF]

open access: yesDevelopmental Dynamics, 2015
Background: Roberts syndrome (RBS) is a rare genetic disorder characterized by craniofacial abnormalities, limb malformation, and often severe mental retardation. RBS arises from mutations in ESCO2 that encodes an acetyltransferase and modifies the cohesin subunit SMC3.
Rajeswari, Banerji   +3 more
openaire   +2 more sources

CLINICAL AND MOLECULAR RESULTS OF SIX CASES WITH ROBERTS SYNDROME: REVIEW OF CASES FROM TURKIYE

open access: yesİstanbul Tıp Fakültesi Dergisi, 2022
Objective: Roberts syndrome is a rare autosomal recessive disease characterized by limb defects, prenatal onset growth retardation, and craniofacial anomalies.
Ayça Dilruba Aslanger   +11 more
doaj   +1 more source

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