Results 51 to 60 of about 1,393 (149)

Comparative transcriptomics reveals that a novel form of phenotypic plasticity evolved via lineage‐specific changes in gene expression

open access: yesEcology and Evolution, Volume 13, Issue 10, October 2023., 2023
We evaluated whether a novel resource polyphenism in New World spadefoot toads evolved by co‐opting mechanisms from an ancestral form of plasticity (accelerating larval development rate in response to pond drying) common in anurans using differential gene expression analysis.
Andrew J. Isdaner   +2 more
wiley   +1 more source

LSM14B is an Oocyte‐Specific RNA‐Binding Protein Indispensable for Maternal mRNA Metabolism and Oocyte Development in Mice

open access: yesAdvanced Science, Volume 10, Issue 18, June 23, 2023., 2023
Through capturing the mouse oocyte RBPome, LSM14B is identified to be an oocyte‐specific RBP that is indispensable for the control of oocyte maturation and the fate of maternal mRNAs. The mRNA‐ and protein‐interaction partners of LSM14B are revealed, which indicate that LSM14B forms dynamic and versatile RNP complexes with proteins and mRNAs that are ...
Hui Li   +8 more
wiley   +1 more source

RRP9 Promotes Esophageal Squamous Cell Carcinoma Progression through E2F1 Transcriptional Regulation of CDK1. [PDF]

open access: yesAdv Biol (Weinh)
The study reveals that RRP9 is abnormally highly expressed in ESCC tissues and is closely associated with poor prognosis in patients. Furthermore, it is found that RRP9 promotes ESCC progression through enhancing the E2F1‐mediated transcriptional regulation of CDK1.
He G   +14 more
europepmc   +2 more sources

A Novel Frameshift Mutation In Esco2 Gene In Roberts Syndrome

open access: yesJournal of the College of Physicians and Surgeons Pakistan, 2018
Roberts syndrome is a very rare autosomal recessive inheritance pattern genetic disorder characterised by symmetric bilateral extremity deformities, midfacial defect, and severe intellectual deficit. These patients also grow slowly prenatal and postnatal. RBS is caused by mutation in the ESCO2 gene.
Mengen E.   +4 more
openaire   +3 more sources

Prenatal diagnosis of Roberts syndrome in a Chinese family based on ultrasound findings and whole exome sequencing: a case report

open access: yesBMC Medical Genomics, 2022
Background Roberts syndrome (RBS) is a rare autosomal recessive disorder caused by variations in the ESCO2 gene; however, prenatal diagnosis of RBS has never been reported in Chinese families.
LiFen Zhu   +5 more
doaj   +1 more source

Juberg-Hayward syndrome is a cohesinopathy, caused by mutation in ESCO2

open access: yesEuropean Journal of Orthodontics, 2020
Summary Background Juberg-Hayward syndrome (JHS; MIM 216100) is a rare autosomal recessive malformation syndrome, characterized by cleft lip/palate, microcephaly, ptosis, short stature, hypoplasia or aplasia of thumbs, and dislocation of radial head and fusion of humerus and radius leading to elbow ...
Piranit Nik, Kantaputra   +9 more
openaire   +2 more sources

Stimulation of mTORC1 with L-leucine rescues defects associated with Roberts syndrome. [PDF]

open access: yesPLoS Genetics, 2013
Roberts syndrome (RBS) is a human disease characterized by defects in limb and craniofacial development and growth and mental retardation. RBS is caused by mutations in ESCO2, a gene which encodes an acetyltransferase for the cohesin complex.
Baoshan Xu   +3 more
doaj   +1 more source

Leveraging Methylation Alterations to Discover Potential Causal Genes Associated With the Survival Risk of Cervical Cancer in TCGA Through a Two-Stage Inference Approach

open access: yesFrontiers in Genetics, 2021
BackgroundMultiple genes were previously identified to be associated with cervical cancer; however, the genetic architecture of cervical cancer remains unknown and many potential causal genes are yet to be discovered.MethodsTo explore potential causal ...
Jinhui Zhang   +9 more
doaj   +1 more source

Distinct roles of cohesin acetyltransferases Esco1 and Esco2 in porcine oocyte meiosis I [PDF]

open access: yesCell Cycle, 2019
In mammalian cells, cohesin acetyltransferases Esco1 and Esco2 acetylate cohesin subunit Smc3 to establish chromosome cohesion, ensuring the accurate chromosome segregation. However, we have previously documented that both Esco1 and Esco2 have unique substrates and roles in mouse oocyte meiosis I to orchestrate the meiotic progression, but whether ...
Yajuan, Lu   +3 more
openaire   +2 more sources

An ever-changing landscape in Roberts syndrome biology: Implications for macromolecular damage.

open access: yesPLoS Genetics, 2020
Roberts syndrome (RBS) is a rare developmental disorder that can include craniofacial abnormalities, limb malformations, missing digits, intellectual disabilities, stillbirth, and early mortality.
Michael G Mfarej, Robert V Skibbens
doaj   +1 more source

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