Results 231 to 240 of about 906,488 (387)

Lactate Metabolism in Intervertebral Disc Degeneration: Unveiling Novel Mechanisms Through Bioinformatics

open access: yesJOR SPINE, Volume 8, Issue 4, December 2025.
This graphical abstract outlines the workflow to uncovering lactate metabolism‐related mechanisms in intervertebral disc degeneration (IDD). First, three IDD datasets (GSE34095: 3 IDD vs 3 control; GSE147383: 2 IDD vs 2 control; GSE70362: 16 IDD vs 8 control) were sourced from the Gene Expression Omnibus (GEO) database, and 73 lactate metabolism ...
Haiyan Sun   +5 more
wiley   +1 more source

Familial ALS With p. L127S (L126S) Variant of the Cu/Zn SOD1 Gene: A Report of Two New Cases and Literature Review

open access: yesNeuropathology, Volume 45, Issue 6, December 2025.
ABSTRACT Herein, we report two autopsy cases of familial ALS with a p. L127S (L126S) SOD1 variant. Case 1 involved a 62‐year‐old woman who presented with lower‐extremity muscle weakness with lower motor neuron signs. The patient developed bulbar palsy and died of respiratory failure 9 years after onset.
Kimiko Inoue   +6 more
wiley   +1 more source

A Population‐Based Study of Limb Body Wall Complex With Proposed Features for Prenatal Diagnosis

open access: yesAmerican Journal of Medical Genetics Part A, Volume 197, Issue 11, November 2025.
ABSTRACT Limb body wall complex (LBWC) is a lethal condition comprising major congenital anomalies. Although currently diagnosed in the early prenatal period, historical diagnostic criteria are based on detailed pathological assessments. Prenatal and postnatal findings of LBWC and their phenotypic overlap with body stalk anomaly (BSA) and recurrent ...
Mary Ann Thomas   +2 more
wiley   +1 more source

Neuroaxonal Dystrophy With Osteopetrosis Associated With a Novel Biallelic Nonsense Homozygous Variant in BORCS5

open access: yesAmerican Journal of Medical Genetics Part A, Volume 197, Issue 11, November 2025.
ABSTRACT Neuroaxonal dystrophy (NAD) with osteopetrosis syndrome (OMIM # 600329) was first reported in a consanguineous Moroccan Jewish family. However, to date, no genetic variant has been linked to this disease. We report on sibs, born to consanguineous Pakistani parents identified prenatally with cerebral ventriculomegaly and agenesis of the corpus ...
Yael Fisher   +6 more
wiley   +1 more source

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