Results 191 to 200 of about 199,160 (290)
American Journal of Medical Genetics Part A, Volume 197, Issue 7, July 2025.ABSTRACT SETD2 has an essential role in epigenetic regulation. SETD2 pathogenic variants cause neurodevelopmental disorders (SETD2‐NDDs) that most commonly include various degrees of intellectual disability and behavioral disorders, macrocephaly, brain malformations, and generalized overgrowth.
Marie Lucain +11 more
wiley +1 more source
Developmental Neurobiology, Volume 85, Issue 3, July 2025.ABSTRACT Reduced expression of the serotonin transporter (5‐hydroxytryptamine transporter, 5‐HTT) in early life has been associated with a delay in postnatal brain development and endophenotypes of a variety of neuropsychiatric and neurodevelopmental disorders in adolescence and adulthood.
Yvet Kroeze +9 more
wiley +1 more source
Impaired Proteostasis is Linked to Neurological Pathology in a Zebrafish NGLY1 Deficiency Model
Journal of Inherited Metabolic Disease, Volume 48, Issue 4, July 2025.ABSTRACT NGLY1 is a key enzyme in the process of misfolded protein deglycosylation. Bi‐allelic pathogenic variants in NGLY1 cause N‐glycanase deficiency, also known as congenital disorder of deglycosylation (NGLY1‐CDDG). This rare and multisystem autosomal recessive disorder is linked to a variable phenotype of global developmental delay, neuromuscular
Aviv Mesika +8 more
wiley +1 more source
Nonsense-mediated mRNA decay in humans at a glance
Journal of Cell Science, 2016 Tatsuaki Kurosaki, L. Maquat
semanticscholar +1 more source
JIMD Reports, Volume 66, Issue 4, July 2025.Schematic illustrating the study design and key findings. Figure created in Biorender.com. ABSTRACT Lysosomal free sialic acid storage disorder (FSASD) is a rare, multisystem neurodegenerative disease caused by biallelic pathogenic variants in SLC17A5, encoding sialin.
Marya S. Sabir +9 more
wiley +1 more source
A new mutation in the gene for lysosomal acid lipase leads to Wolman disease in an African kindred.
Journal of Lipid Research, 1996 Cholesteryl ester storage disease (CESD) and Wolman disease (WD) are both autosomal recessive disorders associated with reduced activity and genetic defects of lysosomal acid lipase (LAL).
S Ries +5 more
doaj
Small Nucleolar RNAs: Biological Functions and Diseases
MedComm, Volume 6, Issue 7, July 2025.The majority of snoRNAs are derived from the intron region of genes, besides to intronic snoRNAs, some snoRNAs are transcribed as independent genes, often by Pol II or III, these snoRNAs are called intergenic snoRNAs. All of these play a role in the occurrence and progression of various diseases through multiple functions.
Yi Wang +4 more
wiley +1 more source
A Novel Null Allele of the RAPH Blood Group System
Transfusion, EarlyView.
Lea Wörner +7 more
wiley +1 more source
Novel Loss of Function Variant in SOST From Chinese Family Results in Sclerosteosis 1
Molecular Genetics &Genomic Medicine, Volume 13, Issue 7, July 2025.In this study, we present a case study of a proband who displays abnormal facial expressions accompanied by numbness. The results of the brain MRI show thickening of the skull and disappearance of the diplopia signal. The temporal bone CT scan indicates diffuse osteosclerosis affecting the bilateral ossicular chains and internal auditory meatus, as ...
Yufan Guo +10 more
wiley +1 more source
The Journal of Pathology, Volume 266, Issue 3, Page 322-336, July 2025.Abstract Variants in the CNGB3 gene, encoding the B3‐subunit of the cone photoreceptor cyclic nucleotide gated channel, are a major cause of autosomal recessive achromatopsia, a rare inherited retinal disease. The mutation spectrum of achromatopsia‐associated CNGB3 variants comprises all types of mutations, including those that are straightforward to ...
Katharina Rawnsley +3 more
wiley +1 more source