Results 101 to 110 of about 818,935 (300)

Multipoint linkage disequilibrium mapping using multilocus allele frequency data

open access: yes, 2005
This paper describes a likelihood based fine scale linkage disequilibrium mapping method for estimating the position of a disease predisposing gene relative to a battery of typed marker loci. The method uses multilocus allele frequency data from a sample
Johnson, T.
core   +1 more source

Systemic dysregulation of apolipoproteins in amyotrophic lateral sclerosis serum

open access: yesFEBS Open Bio, EarlyView.
Amyotrophic lateral sclerosis (ALS) is a fatal disease that damages motor neurons. This study found that people with ALS show significant changes in blood fats and the proteins that carry them. Several apolipoproteins were higher, lipid balances were altered, and normal protein–lipid relationships were disrupted.
Finula I. Isik   +6 more
wiley   +1 more source

The C‐terminal region of KIF26B is indispensable for nephron progenitor condensation and kidney formation in mice

open access: yesFEBS Open Bio, EarlyView.
KIF26B plays an important role in kidney development. We engineered mice lacking the C‐terminal region of KIF26B and found severe kidney defects, including bilateral renal agenesis, similar to full Kif26b knockout mice. The mutation disrupted nephron progenitor condensation and reduced Gdnf‐Wnt11 signaling, showing that the KIF26B C‐terminal region is ...
Yuta Yamamura   +19 more
wiley   +1 more source

Análisis de polimorfismos APO-E en mujeres colombianas con osteoporosis y correlación con variables clínicas y sociales de riesgo.

open access: yesBiomédica: revista del Instituto Nacional de Salud, 2004
Varios estudios han demostrado la asociación de los polimorfismos de la apolipoproteína E (APO-E) con la osteoporosis, especialmente, la APO-E 4. Para analizar los polimorfismos APOE e identificar la asociación con variables clínicas y sociales, se ...
Elsa Villarreal, Antonio Bermúdez
doaj   +1 more source

Mutant NPM1 in Acute Myeloid Leukemia Initiation and Maintenance

open access: yesAging and Cancer, EarlyView.
NPM1 mutations drive acute myeloid leukemia by acting as neomorphic transcriptional regulators that cooperate with Menin–MLL and XPO1 to sustain HOX/MEIS1 expression and block differentiation. Targeting these mutant‐specific transcriptional dependencies provides a rational therapeutic strategy for NPM1‐mutated AML.
Yanan Jiang   +3 more
wiley   +1 more source

Генетическая структура коров черно-пестрой породы по лактопротеинам

open access: yesAgricultural Science, 2020
Systematic genetic monitoring in populations allows to control the level of genetic diversity, to use the capabilities of marker selection, including the assessment of intra-breed differentiation, the formation of an optimal genealogical structure and ...
Татьяна ЛУПОЛОВА   +2 more
doaj  

Super‐Refractory Status Epilepticus (SRSE) in a Patient With Compound Heterozygous OPA1 Variants: Case Report and Literature Review

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi   +2 more
wiley   +1 more source

ABO Rhesus phenotypic and allelic frequencies in blood donors in Oran

open access: yesJournal de la Faculté de Médecine d'Oran, 2017
Introduction - The objective of this study is to estimate the phenotypic and gene frequencies of the ABO and Rhesus (D) systems in blood donors in Oran.
Tahar Deba   +4 more
doaj  

Allele-specific markers for alleles at the major vernalization and photoperiod response genes, primer sequence, PCR product size, annealing temperature and citation for the markers used in this study for the use of genotyping.

open access: yes, 2018
Allele-specific markers for alleles at the major vernalization and photoperiod response genes, primer sequence, PCR product size, annealing temperature and citation for the markers used in this study for the use of genotyping.
Mina Kaviani (5703293)   +4 more
core   +1 more source

CX3CL1 in Early Detection of Alzheimer's Disease: Plasma Dynamics Across Age and Disease Stages

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Backgrounds Alzheimer's disease (AD) is characterized by amyloid‐beta plaques, tau tangles, and neuroinflammation. C‐X3‐C motif chemokine ligand 1 (CX3CL1, also known as fractalkine), a neuroimmune chemokine implicated in AD pathogenesis, shows inconsistent alterations in plasma/serum across studies.
Ling Wang   +6 more
wiley   +1 more source

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