Results 81 to 90 of about 58,203 (304)
FEBS 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
Homozygosity For HLA‐B27 [PDF]
Arthritis & Rheumatism, 1977 AbstractThe effect of homozygosity for HLA‐B27 on the clinical expression of rheumatic disease was studied in two families. The 1 homozygous patient in each of two families demonstrated extraordinarily severe peripheral and axial arthritis compared to other affected heterozygous relatives.
Frank C. Arnett +4 more
openaire +1 more source
Mutant NPM1 in Acute Myeloid Leukemia Initiation and Maintenance
Aging 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
Raw Plink output for homozygosity mapping of hydranencephaly.
, 2023 Raw Plink output for homozygosity mapping of hydranencephaly.
José Suárez Sánchez-Andrade (16426153) +12 more
core +1 more source
Annals 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
Homozygosity analysis in amyotrophic lateral sclerosis
, 2013 Amyotrophic lateral sclerosis (ALS) may appear to be familial or sporadic, with recognised dominant and recessive inheritance in a proportion of cases. Sporadic ALS may be caused by rare homozygous recessive mutations.
Tienari, Pentti J. +18 more
core +2 more sources
Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina +11 more
wiley +1 more source
Excess of homozygosity for different microsatellites.
, 2013 Excess of homozygosity for different microsatellites.
John A Sved (435992) +2 more
core +1 more source
Frontiers in EndocrinologyBackgroundGermline RET-p.C634Y heterozygous mutations are predominant in MEN2A, but homozygous cases and MEN2A-affected identical twins remain poorly characterized.SummaryWe report two MEN2A families—a homozygous female patient and heterozygous male ...
Xiao-Ping Qi +13 more
doaj +1 more source
Cracking the Code: Genotype–Phenotype Correlation Models in Sarcoglycanopathies
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Sarcoglycanopathies are among the most severe limb‐girdle muscular dystrophies (LGMD), though milder presentations have been described. These diseases are primarily caused by missense variants, but the limited predictability of their effect on protein maturation, complex formation, and transport has hindered reliable genotype ...
Leonela Luce +72 more
wiley +1 more source