Results 91 to 100 of about 18,587 (264)

Study of Genetic Aberrations of Sex Chromosome for Turner Syndrome in Peripheral

open access: yesIraqi Journal of Cancer and Medical Genetics, 2011
In this study we do achromosomal analysis to 26 iraqi patients with confirmed Turner Syndrom , after subjected to medical examination by their doctors. Turner Syndrom is achromosomal abnormalities in X chromosome .the age of pateins are among (5-25) years old and divided into tow groups ,the first one is patients with age below 12 years old and the ...
openaire   +1 more source

Male reproductive system in stenopodidean shrimps: Unveiling basal reproductive traits in shrimp‐like Pleocyemata (Stenopodidae and Spongicolidae)

open access: yesThe Anatomical Record, EarlyView.
Abstract Stenopodidea represents one of the basal lineages within Pleocyemata, yet the male reproductive system (MRS) of this group remains poorly understood, with limited information available regarding its morphology and function. This study provides the first detailed description of the MRS in four stenopodidean shrimp species from two families ...
Caio Santos Nogueira   +2 more
wiley   +1 more source

Two cases of sex chromosome aberration XXXXY [PDF]

open access: yesHereditas, 2009
Sindey Aronsson   +2 more
openaire   +1 more source

The “costly son” hypothesis: Sons exacerbate obstetrical dilemmas in humans and other mammals

open access: yesThe Anatomical Record, EarlyView.
Abstract Human childbirth has often been considered uniquely difficult among mammals, yet recent evidence suggests that obstructed labor and fetopelvic disproportion are widespread across placental mammals. Here, we propose the “costly son” hypothesis: because male offspring are typically larger at birth, they impose greater obstetric risk on mothers ...
Nicole D. S. Grunstra   +1 more
wiley   +1 more source

A case of double aneuploidy of Down and Klinefelter syndrome in an Indian infant: a detailed case report

open access: yesEgyptian Journal of Medical Human Genetics
Background A variation in the number of chromosomes can lead to chromosomal disorders. These chromosomal aberrations might be related to autosomes or sex chromosomes.
Sunny Kumar Jignesh Kumar Patel   +2 more
doaj   +1 more source

Higher Complement C4 Gene Copy Number Constitutes a Shared Genetic Risk Factor for Giant Cell Arteritis and IgA Vasculitis

open access: yesArthritis &Rheumatology, EarlyView.
Objective Low copy number (CN) of complement C4 isoforms and high CN of retroviral HERV‐K elements are known risk factors for many immune‐mediated inflammatory diseases (IMIDs), often showing sex‐biased effects. Here, we assessed whether CN variation within the C4 gene contributes to giant cell arteritis (GCA) and IgA vasculitis (IgAV), two complex ...
Laura Martínez‐Gutiérrez   +295 more
wiley   +1 more source

Peripheral Blood DNA Methylation Changes Precede Lymphoma Diagnosis in Primary Sjögren's Disease

open access: yesArthritis &Rheumatology, EarlyView.
Objective Primary Sjögren's disease (SjD) is a systemic autoimmune disease associated with an increased risk of lymphoma. The molecular mechanisms underlying lymphomagenesis remain poorly understood, and sensitive biomarkers for early identification of patients at high risk of developing lymphoma are lacking.
Hanna Lidberg   +2 more
wiley   +1 more source

Type I Interferon Drives Dysfunction of a Distinct CD8+ HLA‐DRB1+ T Cell Subset in Systemic Lupus Erythematosus

open access: yesArthritis &Rheumatology, EarlyView.
Objective Systemic lupus erythematosus (SLE) is characterized by type I interferon (IFN) signaling and adaptive immune dysregulation. We previously identified hypomethylation of HLA‐DRB1 and STAT1 in SLE CD8+ T cells, enabling aberrant IFN‐driven HLA‐DRB1 expression and expansion of a distinct CD8+ T cell subset. This study characterized CD8+ HLA‐DRB1+
Huizhong Long   +3 more
wiley   +1 more source

CASTOR1 Regulates Humoral Immune Responses and Contributes to the Pathogenesis of Systemic Lupus Erythematosus

open access: yesArthritis &Rheumatology, EarlyView.
Objective CASTOR1 senses arginine and regulates mammalian target of rapamycin complex 1 (mTORC1), a central metabolic signaling molecule. This study aimed to elucidate the roles of CASTOR1 in humoral immune responses. Methods We analyzed human B cell transcriptomes from healthy controls and patients with systemic lupus erythematosus (SLE) via ...
Takeshi Kusuda   +5 more
wiley   +1 more source

MDL‐800‐induced SIRT6 activation decreases age‐associated osteoarthritis in mice

open access: yesArthritis &Rheumatology, Accepted Article.
Objective SIRT6 is a nuclear‐localized histone deacetylase that regulates multiple pathways associated with aging. This study aimed to determine whether systemic administration of a small molecule activator of SIRT6, MDL‐800, decreases the severity of age‐associated osteoarthritis (OA) in mice.
Matheus Moreira Perez   +13 more
wiley   +1 more source

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