Results 81 to 90 of about 114,605 (302)

Loss of POGLUT2/3‐mediated O‐glucosylation produces lung and aortic phenotypes reminiscent of fibrillin1 mutants

open access: yesDevelopmental Dynamics, EarlyView.
Abstract Background Fibrillins provide a scaffold for elastic fiber formation, which enables lung recoil and aortic compliance. Abnormal fibrillin microfibrils, as in Marfan syndrome, lead to enlarged alveoli, vascular stiffening, and aneurysms. Our earlier studies suggested that fibrillin function depends on O‐glucosylation of its epidermal growth ...
Sanjiv Neupane   +4 more
wiley   +1 more source

A small population of hypothalamic neurons govern fertility: the critical role of VAX1 in GnRH neuron development and fertility maintenance. [PDF]

open access: yes, 2016
Fertility depends on the correct maturation and function of approximately 800 gonadotropin-releasing hormone (GnRH) neurons in the brain. GnRH neurons are at the apex of the hypothalamic-pituitary-gonadal axis that regulates fertility. In adulthood, GnRH
Hoffmann, Hanne M, Mellon, Pamela L
core   +1 more source

Effect of human leukocyte antigen heterozygosity on infectious disease outcome: The need for allele-specific measures

open access: yesBMC Medical Genetics, 2003
Background Doherty and Zinkernagel, who discovered that antigen presentation is restricted by the major histocompatibility complex (MHC, called HLA in humans), hypothesized that individuals heterozygous at particular MHC loci might be more resistant to ...
Bergstrom Carl T   +2 more
doaj   +1 more source

A Zebrafish Model of Mycobacterium leprae Granulomatous Infection. [PDF]

open access: yes, 2017
Understanding the pathogenesis of leprosy granulomas has been hindered by a paucity of tractable experimental animal models. Mycobacterium leprae, which causes leprosy, grows optimally at approximately 30°C, so we sought to model granulomatous disease in
Cameron, James   +2 more
core   +2 more sources

A multilevel perspective on MSH6‐associated Lynch syndrome: Integrating molecular, biological, and clinical insights

open access: yesInternational Journal of Cancer, EarlyView.
Abstract Lynch syndrome (LS) is the most common hereditary colorectal cancer syndrome, caused by a germline pathogenic variant in one of the mismatch repair (MMR) genes. Among these, MSH6‐associated LS represents a distinct subtype with unique molecular and clinical characteristics.
Salwa Ben Yahia   +4 more
wiley   +1 more source

A Randomized, Sham‐Controlled Trial of Repetitive Transcranial Magnetic Stimulation Targeting M1 and S2 in Central Poststroke Pain: A Pilot Trial

open access: yesNeuromodulation: Technology at the Neural Interface, EarlyView., 2021
Abstract Objectives Central poststroke pain (CPSP), a neuropathic pain condition, is difficult to treat. Repetitive transcranial magnetic stimulation (rTMS) targeted to the primary motor cortex (M1) can alleviate the condition, but not all patients respond. We aimed to assess a promising alternative rTMS target, the secondary somatosensory cortex (S2),
Juhani Ojala   +10 more
wiley   +1 more source

No more time to stay ‘single’ in the detection of Anisakis pegreffii, A. simplex (s. s.) and hybridization events between them: a multi-marker nuclear genotyping approach [PDF]

open access: yes, 2016
A multi-marker nuclear genotyping approach was performed on larval and adult specimens of Anisakis spp. (N = 689) collected from fish and cetaceans in allopatric and sympatric areas of the two species Anisakis pegreffii and Anisakis simplex (s.
Acerra, V.   +7 more
core   +2 more sources

The importance of gene polymorphism in familial inheritance of endometriosis

open access: yesInternational Journal of Gynecology &Obstetrics, EarlyView.
Abstract Objective The study aimed to investigate familial transmission patterns in women with endometriosis by generating a customized single‐nucleotide polymorphism (SNP) array. Methods Patients aged 18–45 who were diagnosed histopathologically with endometriosis were included in the study.
Hale Goksever Celik   +4 more
wiley   +1 more source

Next generation complex genome assembly

open access: yesJulius-Kühn-Archiv, 2016
Whole genome assembly boosts the discovery of genes and pathways involved in the key metabolites produced in medicinal plants. Many medicinal plants possess large, polyploid and/or heterozygote genomes, thus denovo assembly of these genomes poses a ...
Baruch, Kobi   +3 more
doaj   +1 more source

Improving sequence-based genotype calls with linkage disequilibrium and pedigree information

open access: yes, 2012
Whole and targeted sequencing of human genomes is a promising, increasingly feasible tool for discovering genetic contributions to risk of complex diseases.
Whittemore, Alice S., Zhou, Baiyu
core   +1 more source

Home - About - Disclaimer - Privacy