Results 21 to 30 of about 8,590 (232)

Diversity Analysis and Genetic Relationships among Local Brazilian Goat Breeds Using SSR Markers

open access: yesAnimals, 2020
The genetic diversity of six Brazilian native goats was reported using molecular markers. Hair samples of 332 animals were collected from different goat breeds (Moxotó, Canindé, Serrana Azul, Marota, Repartida, and Graúna) from five states of Northeast ...
Marcos Paulo Carrera Menezes   +7 more
doaj   +1 more source

Fatal familial insomnia with a Lewy‐like presentation [PDF]

open access: yesAlzheimers Dement
Abstract Background Fatal Familial Insomnia (FFI) is a rare autosomal dominant prion disease. Herein, we present a case of a patient who was diagnosed with FFI, with symptoms initially resembling dementia with Lewy bodies (DLB). Method A 48‐year‐old Brazilian male with a six‐year history of insomnia presented with rapidly progressive dementia with ...
Teixeira M   +6 more
europepmc   +2 more sources

Genetic signature detected in T cell receptors from patients with severe COVID-19

open access: yesiScience, 2023
Summary: Characterization of host genetic factors contributing to COVID-19 severity promises advances on drug discovery to fight the disease. Most genetic analyses to date have identified genome-wide significant associations involving loss-of-function ...
Manuel Corpas   +12 more
doaj   +1 more source

Prediction of progression to dementia in individuals with subjective cognitive decline [PDF]

open access: yesAlzheimers Dement
Abstract Background Identifying Subjective Cognitive Decline (SCD) patients at increased dementia risk is essential for accurate prognosis, and their potential selection for novel disease‐modifying therapies clinical trials, enabling the inclusion of early stages of neurodegenerative diseases.
Sánchez M   +8 more
europepmc   +2 more sources

Distinctive germline expression of class I human leukocyte antigen (HLA) alleles and DRB1 heterozygosis predict the outcome of patients with non-small cell lung cancer receiving PD-1/PD-L1 immune checkpoint blockade

open access: yesJournal for ImmunoTherapy of Cancer, 2020
Background Nivolumab is a human monoclonal antibody against programmed cell death receptor-1 (PD-1) able to rescue quiescent tumor infiltrating cytotoxic T lymphocytes (CTLs) restoring their ability to kill target cells expressing specific tumor antigen ...
P. Correale   +25 more
semanticscholar   +1 more source

Molecular analysis of PKU-associated PAH mutations: a fast and simple genotyping test [PDF]

open access: yes, 2018
: Neonatal screening for phenylketonuria (PKU, OMIM: 261600) was introduced at the end of the 1960s. We developed a rapid and simple molecular test for the most frequent phenylalanine hydroxylase (PAH, Gene ID: 5053) mutations.
Antonio Angeloni   +9 more
core   +1 more source

Modelagem de efeitos genéticos e ambientais que influenciam o peso à desmama de bezerros mestiços Charolês-Zebu Modeling of genetic and environmental effects affecting the weaning weight of Charolais-Zebu crossbred calves

open access: yesRevista Brasileira de Zootecnia, 2011
Este trabalho foi realizado com o objetivo de avaliar alternativas para modelagem de efeitos genéticos e ambientais que influenciam o peso à desmama de bezerros mestiços Charolês-Zebu.
Fábio Luiz Buranelo Toral   +3 more
doaj   +1 more source

PECULIARITIES OF THE GENETIC STRUCTURE OF RAINBOW TROUT (ONCORHYNCHUS MYKISS) GROUPS AT THE FISH FARM “SLOBODA BANILOV”, CHERNIVTSI REGION

open access: yesRibogospodarsʹka Nauka Ukraïni, 2016
Purpose. Study of the peculiarities of the genetic structure based on genetic-biochemical markers in age-1+ and 2+ rainbow trout of the fish farm “Sloboda Banilov”, Chernivtsi region Methodology.
Р. Mendrishora   +2 more
doaj   +1 more source

Overwhelming sepsis in a neonate affected by Zellweger syndrome due to a compound heterozygosis in PEX 6 gene: a case report

open access: yesBMC Medical Genetics, 2020
Background Peroxisome biogenesis disorders (PBDs) are a group of metabolic diseases caused by dysfunction of peroxisomes. Different forms of PBDs are described; the most severe one is the Zellweger syndrome (ZS).
L. Lucaccioni   +7 more
semanticscholar   +1 more source

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