Results 121 to 130 of about 250,365 (285)

Phylogenomics, ecomorphological evolution, and historical biogeography in Deuterocohnia (Bromeliaceae: Pitcairnioideae)

open access: yesAmerican Journal of Botany, EarlyView.
Abstract Premise Species of Deuterocohnia (17 spp.) show extraordinary variation in elevation (0–3900 m a.s.l.) and growth forms, and many have narrow geographic distributions in the west‐central Andes and the Peru‐Chile coast. Previous research using few plastid and nuclear loci failed to produce well‐resolved or supported phylogenies.
Bing Li   +5 more
wiley   +1 more source

CD8+ T cell memory is sustained in mice by hepatic stellate cells

open access: yesHepatology, EarlyView., 2022
HSC role in memory CD8+ T cell maintenance. Abstract Background and Aims Long‐lasting immunological memory is the ultimate goal of vaccination. Homeostatic maintenance of memory CD8+ cytotoxic T cells (MemCD8TCs) is thought to be mediated by IL‐15/IL‐15R heterodimer (15HD)‐expressing myeloid cells.
Yi‐Ting Chen   +4 more
wiley   +1 more source

Autosomal Dominant Erythrocytosis Caused by Non‐Renal Erythropoietin (EPO) Due to EPO c.‐136 G>A Germline Mutation

open access: yesAmerican Journal of Hematology, EarlyView.
A novel erythropoietin (EPO) promoter mutation (c.‐136 G>A) causes autosomal dominant erythrocytosis via non‐renal expression of EPO. ABSTRACT We previously reported a five‐generation kindred with autosomal dominant erythrocytosis associated with a novel germline promoter variant in the erythropoietin (EPO) gene (EPO c.‐136 G>A).
Lucie Lanikova   +10 more
wiley   +1 more source

TP53 R249S mutation in hepatic organoids captures the predisposing cancer risk

open access: yesHepatology, EarlyView., 2022
The systematic approach in elucidating the gain‐of‐function (GOF) roles of TP53 mutations in early liver carcinogenesis. Unique downstream targets of TP53 L3 mutations were identified from chormatin immunoprecipitation sequencing in HCC cell lines, followed by a series of validation assays to substantiate the exclusive transcriptional regulations ...
Yin Kau Lam   +10 more
wiley   +1 more source

Nance‐Horan Syndrome: Further Delineation of the Affected Male and the Female Carrier Phenotypes

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Nance‐Horan syndrome (NHS; OMIM 302350) is a rare, X‐linked syndrome characterized by bilateral congenital cataracts leading to profound vision loss, specific dental anomalies including characteristic screwdriver blade‐shaped incisors, facial anomalies, and intellectual disability.
Maria K. Haanpää   +14 more
wiley   +1 more source

Data on the exon-intron organization of genes coding for B-cell receptor-like proteins

open access: gold, 2017
Sergey Y. Morozov   +3 more
openalex   +1 more source

Intron mis-splicing: no alternative? [PDF]

open access: bronze, 2008
Scott William Roy, Manuel Irimia
openalex   +1 more source

Molecular Profiling of Genes Associated With Methylphenidate Pathway Therapy and Discovery of New Variants in Amazonian Amerindian Populations

open access: yesAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT In Attention Deficit Hyperactivity Disorder (ADHD), methylphenidate is one of the most widely used drugs, in which patient response significantly impacts prognosis. This study aimed to characterize the molecular profile of 10 genes associated with methylphenidate therapy.
Aline Pasquini Santos   +14 more
wiley   +1 more source

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