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| http://dx.doi.org/10.1097/BS9.0000000000000180 | DOI Listing |
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Alzheimers Dement
December 2024
Federal University of Minas Gerais, Belo Horizonte, Minas Gerais, Brazil.
Background: Acetylcholine, a neurotransmitter critical for cognitive functions, including attention, memory, and sociability, is essential for maintaining synaptic integrity. Deficits in acetylcholine levels are linked to cognitive impairments. Heterozygous VAChT KD (VAChT KDHET) mice, characterized by reduced vesicular acetylcholine transporter protein production, exhibit cognitive impairments due to diminished acetylcholine release.
View Article and Find Full Text PDFOsteoporosis Caused by Monoallelic Variant of WNT1 Gene in Four Pediatric Patients.
Am J Med Genet A
January 2025
Department of Endocrinology, Genetics and Metabolism, Beijing Children's Hospital, Capital Medical University, Beijing, China.
Pediatric patients of autosomal dominant early onset osteoporosis conferred by heterozygous mutation in the WNT1 (OMIM: 615221) were rarely reported, and therapy in pediatrics is relatively inexperienced. The clinical and genotypic characteristics and treatment process of four children with osteoporosis caused by WNT1 monoallelic variation were analyzed. The patients admitted from June 2023 to January 2024.
View Article and Find Full Text PDFIdentification of novel CDH23 heterozygous variants causing autosomal recessive nonsyndromic hearing loss.
Genes Genomics
January 2025
Medical Genetic Diagnosis and Therapy Center of Fujian Maternity and Child Health Hospital College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fujian Provincial Key Laboratory of Prenatal Diagnosis and Birth Defect, Fuzhou, Fujian, China.
Background: Hearing loss adversely impacts language development, acquisition, and the social and cognitive maturation of affected children. The hearing loss etiology mainly includes genetic factors and environmental factors, of which the former account for about 50-60%.
Objective: This study aimed to investigate the genetic basis of autosomal recessive non-syndromic hearing loss (NSHL) by identifying and characterizing novel variants in the CDH23 gene.
Identification of a novel missense variant in the gene in a Japanese pedigree with familial neurohypophyseal diabetes insipidus.
Clin Pediatr Endocrinol
January 2025
Department of Pediatrics, Ogaki Municipal Hospital, Ogaki, Japan.
Familial neurohypophyseal diabetes insipidus is a rare genetic disease caused by gene variants and is characterized by progressive polyuria and polydipsia in early childhood. Herein, we have reported the clinical symptoms and genetic test results of a Japanese patient with a family history of polyuria and polydipsia for over five generations. The proband was a 6-yr-old boy who was referred for the evaluation of polyuria and polydipsia.
View Article and Find Full Text PDFSingle-Nucleotide Polymorphisms in MMP3, TIMP1, and MTR Genes are Associated With Delayed Deciduous Tooth Eruption.
Biochem Genet
January 2025
Posgraduate Program in Dentistry, Institute of Health Sciences, Fluminense Federal University, Nova Friburgo, RJ, Brazil.
To analyze whether the single-nucleotide polymorphisms (SNPs) in Matrix metalloproteinases 2, 3, and 9 (MMP2, MMP3, and MMP9), Tissue Inhibitor of Metalloproteinases 1 and 2 (TIMP1 and TIMP2), methionine synthase (MTR) and methionine synthase reductase (MTRR) influence delayed deciduous tooth eruption (DDTE). This cross-sectional study included 1060 biologic unrelated children (aged between 6 and 36 months) of both sexes, selected from 25 public schools in Nova Friburgo, Rio de Janeiro, Brazil. Oral examination was conducted and DDTE was defined by the absence of gingival eruption according to a chronology based on the Brazilian population.
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