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Naa15 Haploinsufficiency and De Novo Missense Variants Associate With Neurodevelopmental Disorders and Interfere With Neurogenesis and Neuron Development.
Autism Res
January 2025
Center for Medical Genetics and Hunan key Laboratory of Medical Genetics, MOE Key Laboratory of Rare Pediatric Disease, School of Life Sciences, Central South University, Changsha, Hunan, China.
Neurodevelopmental disorders (NDDs) encompass a group of conditions that impact brain development and function, exhibiting significant genetic and clinical heterogeneity. NAA15, the auxiliary subunit of the N-terminal acetyltransferase complex, has garnered attention due to its association with NDDs. However, the precise role of NAA15 in cortical development and its contribution to NDDs remain elusive.
View Article and Find Full Text PDF[Clinical characteristics and genetic analysis of maturity-onset diabetes of the young type 2 diagnosed in childhood].
Zhongguo Dang Dai Er Ke Za Zhi
January 2025
Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology/Hubei Key Laboratory of Pediatric Genetic Metabolic and Endocrine Rare Diseases, Wuhan 430030, China.
Objectives: To study the clinical manifestations and genetic characteristics of children with maturity-onset diabetes of the young type 2 (MODY2), aiming to enhance the recognition of MODY2 in clinical practice.
Methods: A retrospective analysis was conducted on the clinical data of 13 children diagnosed with MODY2 at the Department of Pediatrics of Tongji Hospital of Tongji Medical College of Huazhong University of Science and Technology from August 2017 to July 2023.
Results: All 13 MODY2 children had a positive family history of diabetes and were found to have mild fasting hyperglycemia [(6.
Diet and trophic structure of fishes in the Barents Sea: between empty and full stomachs - large individual variability follows a common pattern.
J Fish Biol
January 2025
Polar branch of the Russian Federal Research Institute of Fisheries and Oceanography ("PINRO" named after N.M. Knipovich), Murmansk, Russia.
More than 27,000 stomachs from 70 species of fish were collected from the Barents Sea in 2015. Quantitative stomach content expressed relative to the body weight of the predator fish (g g as %) varied by four to five orders of magnitude for six species with the largest sample size (Atlantic cod Gadus morhua, haddock Melanogrammus aeglefinus, Greenland halibut Reinhardtius hippoglossoides, long rough dab Hippoglossoides platessoides, polar cod Boreogadus saida, and Atlantic capelin Mallotus villosus). The quantitative stomach contents of individual fish followed a common and strict statistical relationship for predator species or groups of species (by families), and for prey categories across predator species.
View Article and Find Full Text PDFFunctional variants in the cystic fibrosis transmembrane conductance regulator (CFTR) gene are associated with increased risk of colorectal cancer.
Hum Mol Genet
January 2025
Laboratory Medicine and Pathology, University of Minnesota, 420 Delaware Street SE, Minneapolis, MN, 55455, USA.
Background: Individuals with cystic fibrosis (CF; a recessive disorder) have an increased risk of colorectal cancer (CRC). Evidence suggests individuals with a single CFTR variant may also have increased CRC risk.
Methods: Using population-based studies (GECCO, CORECT, CCFR, and ARIC; 53 785 CRC cases and 58 010 controls), we tested for an association between the most common CFTR variant (Phe508del) and CRC risk.
Enriched phenotypes in rare variant carriers suggest pathogenic mechanisms in rare disease patients.
BioData Min
January 2025
Department of Biomedical Informatics, Harvard Medical School, Boston, MA, 02115, USA.
Background: The mechanistic pathways that give rise to the extreme symptoms exhibited by rare disease patients are complex, heterogeneous, and difficult to discern. Understanding these mechanisms is critical for developing treatments that address the underlying causes of diseases rather than merely the presenting symptoms. Moreover, the same dysfunctional series of interrelated symptoms implicated in rare recessive diseases may also lead to milder and potentially preventable symptoms in carriers in the general population.
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