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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 PDFMeasurement and Analysis of Optical Transmission Characteristics of the Human Skull.
J Biophotonics
January 2025
Department of Emergency, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Science and Peking Union Medical College, Beijing, China.
The brain, as a vital part of central nervous system, receives approximately 25% of body's blood supply, making accurate monitoring of cerebral blood flow essential. While fNIRS is widely used for measuring brain physiology, complex tissue structure affects light intensity, spot size, and detection accuracy. Many studies rely on simulations with limited experimental validation.
View Article and Find Full Text PDFGenomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Nat Med
January 2025
Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.
Genetic diagnosis of rare diseases requires accurate identification and interpretation of genomic variants. Clinical and molecular scientists from 37 expert centers across Europe created the Solve-Rare Diseases Consortium (Solve-RD) resource, encompassing clinical, pedigree and genomic rare-disease data (94.5% exomes, 5.
View Article and Find Full Text PDFReturning genetic risk information for hereditary cancers to participants in a population-based cohort study in Japan.
J Hum Genet
January 2025
Tohoku Medical Megabank Organization, Tohoku University, Sendai, Miyagi, Japan.
Large-scale population cohort studies that collect genomic information are tasked with returning an assessment of genetic risk for hereditary cancers to participants. While several studies have applied to return identified genetic risks to participants, comprehensive surveys of participants' understanding, feelings, and behaviors toward cancer risk remain to be conducted. Here, we report our experience and surveys of returning genetic risks to 100 carriers of pathogenic variants for hereditary cancers identified through whole genome sequencing of 50 000 individuals from the Tohoku Medical Megabank project, a population cohort study.
View Article and Find Full Text PDFClimate change and food security nexus in Ghana: The role of renewable energy.
Sci Total Environ
January 2025
Department of Agribusiness Management and Consumer Studies, University of Energy and Natural Resources, Sunyani, Ghana; Department of Applied Agriculture, Central University of Punjab, India.
Climate change is aggravating hunger, which is miserable in Sub-Saharan African nations like Ghana. Yet evidence of the effect of climatic variables on hunger, particularly multidimensional food security, is less illuminated in Ghana. Moreover, the decoupling effect of renewable energy on emissions and food security is rare in the Ghanaian context.
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