Results 151 to 160 of about 269,697 (252)

Two novel kindreds with autosomal recessive STAT2 deficiency. [PDF]

J Hum Immun
Kienapfel V, Cresens L, Bizien L, Vasconcelos J, Chbihi M, Guedes M, Marinho A, Hombrouck A, Wouters M, Laurens D, Nakajima K, Casanova JL, Bustamante J, Zhang SY, Bastard P, Moens L, Meyts I, Bucciol G.   +17 more
europepmc   +1 more source

WDR72 Drives Esophageal Squamous Cell Carcinoma Progression by Inhibiting Autophagy via the PI3K/Akt/mTOR Pathway

The Kaohsiung Journal of Medical Sciences, EarlyView.
ABSTRACT Esophageal squamous cell carcinoma (ESCC) is an aggressive malignancy with a high rate of recurrence and metastasis, necessitating the identification of novel therapeutic targets. WD repeat‐containing protein 72 (WDR72) has been linked to various cancers, but its specific biological function and underlying mechanism in ESCC remain largely ...
Hao Wu, Zhong‐Xiang Jiang, Zheng Jiang
wiley   +1 more source

Autosomal recessive human CTLA-4 deficiency with autoimmune infiltration. [PDF]

J Hum Immun
Su HC.
europepmc   +1 more source

The Burden of Airway Disease in Mucopolysaccharidoses: Evidence Across Subtypes

The Laryngoscope, EarlyView.
ABSTRACT Objective To synthesize the prevalence and subtype‐specific patterns of airway manifestations in mucopolysaccharidoses (MPS) and summarize related morbidity and mortality. Data Sources PubMed, CINAHL, Ovid Embase, Ovid MEDLINE, and Ovid All EBM Reviews.
Julia Edward, Alix Pincivy, Mathieu Bergeron   +2 more
wiley   +1 more source

Novel Compound-Heterozygous Variants in PYCR1 Expand the Variant Spectrum of Autosomal Recessive Cutis Laxa. [PDF]

Genes (Basel)
Wang X, Zhao Z, Cheng W, Liu J, Zhang S, Dong Y, Xu S.   +6 more
europepmc   +1 more source

CYP4F22-Related Autosomal Recessive Congenital Ichthyosis Associated With Hirschsprung Disease and Bartter-Like Renal Manifestations. [PDF]

J Med Cases
Alqahtani JM.
europepmc   +1 more source

Data‐Driven Insights into Hyperkinetic Disorders in Neurodevelopmental Syndromes and Epileptic Encephalopathies

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Childhood‐onset hyperkinetic movement disorders occur in a range of genetic conditions. Recently, there has been an increase in recognition of hyperkinetic movement disorders, mainly dystonia, chorea and dyskinesia, with monogenic conditions associated with neurodevelopmental delay (NDD) and also with developmental and epileptic ...
Hugo Morales‐Briceño, Shekeeb S. Mohammad, Rajeshwar Reddy Angiti, Velda Han, Michel Tchan, Russell C. Dale, Victor S.C. Fung   +6 more
wiley   +1 more source

Biallelic VPS41 Variants in Autosomal Recessive Spinocerebellar Ataxia 29 Resolved by Long-Read Sequencing and RNA Analysis. [PDF]

Mol Genet Genomic Med
Nakamura N, Nishio Y, Nyuzuki H, Fukushima A, Miura M, Kobayashi Y, Ishioka R, Tsukada K, Oka Y, Tsujikawa K, Morinaga H, Inaba M, Tohyama J, Nakazawa Y, Ikeuchi T, Ono T, Saitoh S, Ogi T.   +17 more
europepmc   +1 more source

Tracking Genetic Parkinson's Disease with Molecular Imaging: A Systematic Review

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Parkinson's disease (PD) is a worldwide, complex neurodegenerative disorder influenced by both genetic and environmental factors. Around 15–20% of PD cases are linked to genetic mutations, providing insights into the disease's pathogenesis.
Chiara Meneghini, Luca Gallo, Arianna Sala, Enza Maria Valente, Micol Avenali, Silvia Paola Caminiti   +5 more
wiley   +1 more source

Autosomal recessive agammaglobulinemia due to compound heterozygous IGHM alterations identified: a case report. [PDF]

Front Med (Lausanne)
Puente C, Aldave Becerra JC.
europepmc   +1 more source