Results 101 to 110 of about 123,835 (338)

Comprehensive Measurement of Inter‐Individual Variation in DNA Repair Capacity in Healthy Individuals

open access: yesAdvanced Science, EarlyView.
Susceptibility to the health effects of DNA damage depends on a person's ability to repair DNA damage, but DNA repair has been difficult to measure in populations. A functional assay called FM‐HCR is used to measure DNA repair in 6 major pathways across 56 individuals.
Ting Zhai   +7 more
wiley   +1 more source

Mitotic antipairing of homologous and sex chromosomes via spatial restriction of two haploid sets. [PDF]

open access: yes, 2018
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

Electrosensitive Heterogeneous Short Fibers via Acousto‐Electric Coupling for Sequential Bone Regeneration in Infectious Defects

open access: yesAdvanced Science, EarlyView.
Electrosensitive heterogeneous short fibers can accurately respond to ultrasonic field regulation through the synergistic interaction of piezoelectric and conductive dual elements. At an ultrasound intensity of 1.5 W cm−2, it can effectively activate bacterial peroxisome and necrotic apoptotic pathway and promote bacterial apoptosis.
Xiaoyu Han   +11 more
wiley   +1 more source

LARP7 is required for sex chromosome silencing during meiosis in mice.

open access: yesPLoS ONE
Meiotic sex chromosome inactivation (MSCI) is an essential event in meiotic progression in mammalian spermatogenesis. We found that La Ribonucleoprotein 7 (LARP7) is involved in MSCI. LARP7 plays a role in fetal germ cells to promote their proliferation,
Yukiko Tando   +6 more
doaj   +1 more source

Case Series of Nizon‐Isidor Syndrome by Heterozygous Variants in MED12L With Further Evidence of Mitotic Instability in One Case With Diploid–Triploid Mosaicism

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Nizon‐Isidor syndrome is a rare disorder caused by heterozygous variants in MED12L, with only eight documented cases in the literature. Here, we present three additional cases of this syndrome. Proband 1 was a 7‐year‐old female who presented with developmental delay, right‐leg hemihypertrophy, laryngeal cleft, esotropia, abnormal skin ...
Russell Stewart   +336 more
wiley   +1 more source

ARID1A governs the silencing of sex-linked transcription during male meiosis in the mouse

open access: yeseLife
We present evidence implicating the BAF (BRG1/BRM Associated Factor) chromatin remodeler in meiotic sex chromosome inactivation (MSCI). By immunofluorescence (IF), the putative BAF DNA binding subunit, ARID1A (AT-rich Interaction Domain 1 a), appeared ...
Debashish U Menon   +3 more
doaj   +1 more source

Sex-biased genetic programs in liver metabolism and liver fibrosis are controlled by EZH1 and EZH2.

open access: yesPLoS Genetics, 2020
Sex differences in the incidence and progression of many liver diseases, including liver fibrosis and hepatocellular carcinoma, are associated with sex-biased hepatic expression of hundreds of genes.
Dana Lau-Corona   +3 more
doaj   +1 more source

New Insights Into Changes in the DNA Methylation Pattern of the SHOX Gene in Patients With Léri‐Weill Dyschondrosteosis

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT SHOX gene haploinsufficiency is associated with Léri‐Weill dyschondrosteosis (LWD) or idiopathic short stature (ISS) and could be caused by the structural and point mutations in the coding region and by the deletions in SHOX gene regulatory sequences. The role of the duplications in regulatory sequences is ambivalent.
Valeriia Kopytko   +3 more
wiley   +1 more source

Activin A–Activated ALK4 Induces Pathogenic Th17‐Involved Endothelial–Mesenchymal Transition in Systemic Lupus Erythematosus–Associated Pulmonary Arterial Hypertension

open access: yesArthritis &Rheumatology, EarlyView.
Objective Autoimmune diseases, such as systemic lupus erythematosus (SLE), are associated with pulmonary arterial hypertension (PAH), a condition that can lead to heart failure. However, whether T cells also contribute to the occurrence of PAH in SLE has not been clarified.
Shuliang Jing   +9 more
wiley   +1 more source

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