Ovarian dysgenesis associated with an unbalanced X;6 translocation: first characterisation of reproductive anatomy and cytogenetic evaluation in partial trisomy 6 with breakpoints at Xq22 and 6p23. [PDF]
The aim of this study was to describe the clinical and laboratory findings associated with a previously unreported unbalanced X;6 translocation. Physical examination, reproductive history and cytogenetic techniques were used to characterise a novel ...
Cotter, Philip D +5 more
core +1 more source
Genome‐Wide by Lifetime Environment Interaction Studies of Brain Imaging Phenotypes
This study explores genome‐wide by lifetime environment interactions on brain imaging phenotypes. Gene‐environment interactions explain more phenotypic variance than main effects, pinpoint regulatory variants, and reveal exposure‐specific biological pathways.
Sijia Wang +51 more
wiley +1 more source
Mettl3‐Mediated m6A Modification Represents a Novel Therapeutic Target for FSGS
This study explores the roles of Mettl3‐induced N6‐methyladenosine (m6A) modifications in Focal segmental glomerulosclerosis (FSGS). The findings reveal that inhibition of Mettl3 results in podocyte injury by modulating the TJP1CDC42 pathway. Moreover, Administration of N6‐methyladenosine attenuates the FSGS phenotype in WT mice induced by Adriamycin ...
Fubin Zhu +14 more
wiley +1 more source
Classical and molecular cytogenetic studies in some cattle breeds
Numerical autosome aberrations have a few importance in the animal breeding since the carriers show generally abnormal body conformation. For this reason, these abnormalities are systematically eliminated from the animal population by the breeders during
G. Succi +7 more
doaj +1 more source
Loxodontomys pikumche (Rodentia, Cricetidae): nueva especie para Argentina [PDF]
We report the first record of occurrence of Loxodontomys pikumche Spotorno et al., 1998, in the Central Andes of Argentina. We briefly describe external characters, skull, karyotype, and habitat; also, we provide general comparisons with the other known ...
Novillo, Agustina +2 more
core
Genome‐wide, high‐resolution profiling of hydroxymethylation in mouse SCNT embryos reveals a transient, allele‐symmetric 5hmC reprogramming pattern distinct from natural embryos, with X‐chromosomes and imprinting control regions resistant to proper remodeling.
Zeming Xiang +9 more
wiley +1 more source
Mitotic antipairing of homologous and sex chromosomes via spatial restriction of two haploid sets. [PDF]
Pairing homologous chromosomes is required for recombination. However, in nonmeiotic stages it can lead to detrimental consequences, such as allelic misregulation and genome instability, and is rare in human somatic cells.
Hua, Lisa L, Mikawa, Takashi
core +1 more source
Cancer‐Like Fragmentomic Characteristics of Somatic Variants in Cell‐Free DNA
We report that in non‐cancerous subjects, cell‐free (cfDNA) molecules harboring somatic variants exhibit cancer‐like fragmentomic characteristics associated with clonal hematopoiesis. Importantly, these somatic variant‐associated fragmentomic aberrations are more pronounced in cancer patients. Leveraging such somatic variant‐associated signals in cfDNA,
Zhenyu Zhang +12 more
wiley +1 more source
Signatures of replication timing, recombination, and sex in the spectrum of rare variants on the human X chromosome and autosomes [PDF]
Ipsita Agarwal, Molly Przeworski
openalex +1 more source
Meta‐GWAS of Pig Semen Quality Traits Reveals Conserved Genes Regulating Mammalian Fertility
This study incorporated 14 210 individuals to perform a GWAS meta‐analysis of six semen quality traits. The GWAS meta‐analysis identifies 234 GWAS loci associated with semen quality traits. The incorporation with a functional genomics resource explains potential genetic regulation of ∼40% GWAS signals underlying semen quality traits.
Qing Lin +26 more
wiley +1 more source

