Cargando…

Pathological variants in genes associated with disorders of sex development and central causes of hypogonadism in a whole-genome reference panel of 8380 Japanese individuals

Disorders of sex development (DSD) comprises a congenital condition in which chromosomal, gonadal, or anatomical sex development is atypical. In this study, we screened for pathogenic variants in 32 genes associated with DSDs and central causes of hypogonadism (CHG) in a whole-genome reference panel...

Descripción completa

Detalles Bibliográficos
Autores principales:	Shiga, Naomi, Yamaguchi-Kabata, Yumi, Igeta, Saori, Yasuda, Jun, Tadaka, Shu, Minato, Takamichi, Watanabe, Zen, Kanno, Junko, Tamiya, Gen, Fuse, Nobuo, Kinoshita, Kengo, Kure, Shigeo, Kondo, Akiko, Tachibana, Masahito, Yamamoto, Masayuki, Yaegashi, Nobuo, Sugawara, Junichi
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group UK 2022
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9519586/ https://www.ncbi.nlm.nih.gov/pubmed/36171209 http://dx.doi.org/10.1038/s41439-022-00213-w

Ejemplares similares

Estimation of the carrier frequencies and proportions of potential patients by detecting causative gene variants associated with autosomal recessive bone dysplasia using a whole-genome reference panel of Japanese individuals
por: Nagaoka, Shinichi, et al.
Publicado: (2021)

Successful pregnancy and vaginal delivery after laparoscopic excision of a congenital uterine cervical diverticulum: A case report
por: Tanaka, Keiko, et al.
Publicado: (2020)

Association between maternal infertility treatment and child neurodevelopment: findings from the Tohoku Medical Megabank Project Birth and Three-Generation Cohort Study in Miyagi and Iwate Prefectures, Japan
por: Noda, Aoi, et al.
Publicado: (2022)

Novel candidates of pathogenic variants of the BRCA1 and BRCA2 genes from a dataset of 3,552 Japanese whole genomes (3.5KJPNv2)
por: Tokunaga, Hideki, et al.
Publicado: (2021)

Exploration of the Cytoplasmic Function of Abnormally Fertilized Embryos via Novel Pronuclear-Stage Cytoplasmic Transfer
por: Fujimine-Sato, Ayako, et al.
Publicado: (2021)

Mitochondrial replacement therapy and assisted reproductive technology: A paradigm shift toward treatment of genetic diseases in gametes or in early embryos
por: Tachibana, Masahito, et al.
Publicado: (2018)

Mature ovarian cystic teratoma with disseminated nodular lesions in the pleural and peritoneal cavities: A case report
por: Minato, Takamichi, et al.
Publicado: (2018)

A Preclinical Evaluation towards the Clinical Application of Oxygen Consumption Measurement by CERMs by a Mouse Chimera Model
por: Kuno, Takashi, et al.
Publicado: (2019)

Complete Genome Sequence of Pseudomonas aeruginosa Strain 8380, Isolated from the Human Gut
por: Ichise, Yu-ki, et al.
Publicado: (2015)

Autotaxin Inhibition with PF-8380 Enhances the Radiosensitivity of Human and Murine Glioblastoma Cell Lines
por: Bhave, Sandeep R., et al.
Publicado: (2013)

Establishment of Integrated Biobank for Precision Medicine and Personalized Healthcare: The Tohoku Medical Megabank Project
por: Fuse, Nobuo, et al.
Publicado: (2019)

The structural origin of metabolic quantitative diversity
por: Koshiba, Seizo, et al.
Publicado: (2016)

Identification of critical genetic variants associated with metabolic phenotypes of the Japanese population
por: Koshiba, Seizo, et al.
Publicado: (2020)

Aggressive neuroendocrine tumor of the ovary with multiple metastases treated with everolimus: A case report
por: Kaiho-Sakuma, Michiko, et al.
Publicado: (2018)

Association of fish intake with menstrual pain: A cross-sectional study of the Japan Environment and Children’s Study
por: Yokoyama, Emi, et al.
Publicado: (2022)

Rare variant discovery by deep whole-genome sequencing of 1,070 Japanese individuals
por: Nagasaki, Masao, et al.
Publicado: (2015)

Maternity Log study: a longitudinal lifelog monitoring and multiomics analysis for the early prediction of complicated pregnancy
por: Sugawara, Junichi, et al.
Publicado: (2019)

Regional genetic differences among Japanese populations and performance of genotype imputation using whole-genome reference panel of the Tohoku Medical Megabank Project
por: Yasuda, Jun, et al.
Publicado: (2018)

Establishment of the early prediction models of low-birth-weight reveals influential genetic and environmental factors: a prospective cohort study
por: Mizuno, Satoshi, et al.
Publicado: (2023)

3.5KJPNv2: an allele frequency panel of 3552 Japanese individuals including the X chromosome
por: Tadaka, Shu, et al.
Publicado: (2019)

Novel cooperative pathway of c-Myc and Furin, a pro-protein convertase, in cell proliferation as a therapeutic target in ovarian cancers
por: Hasegawa-Minato, Junko, et al.
Publicado: (2017)

Maternal Baseline Characteristics and Perinatal Outcomes: The Tohoku Medical Megabank Project Birth and Three-Generation Cohort Study
por: Sugawara, Junichi, et al.
Publicado: (2022)

Precautions during Direct Oral Anticoagulant Introduction in Gynecologic Malignancies: A Single-Center Retrospective Cohort Study
por: Shimizu, Takanori, et al.
Publicado: (2023)

Construction and integration of three de novo Japanese human genome assemblies toward a population-specific reference
por: Takayama, Jun, et al.
Publicado: (2021)

Nateglinide is Effective for Diabetes Mellitus with Reactive Hypoglycemia in a Child with a Compound Heterozygous ABCC8 Mutation
por: Saito-Hakoda, Akiko, et al.
Publicado: (2012)

Security controls in an integrated Biobank to protect privacy in data sharing: rationale and study design
por: Takai-Igarashi, Takako, et al.
Publicado: (2017)

A Pilot Study for Return of Individual Pharmacogenomic Results to Population-Based Cohort Study Participants
por: Ohneda, Kinuko, et al.
Publicado: (2022)

Oral Microbiome Analysis in Prospective Genome Cohort Studies of the Tohoku Medical Megabank Project
por: Saito, Sakae, et al.
Publicado: (2021)

Associations between the Combined Fat Mass Index and Fat-Free Mass Index with Carotid Intima-Media Thickness in a Japanese Population: The Tohoku Medical Megabank Community-Based Cohort Study
por: Takase, Masato, et al.
Publicado: (2023)

Tyrosine kinase receptor TIE-1 mediates platinum resistance by promoting nucleotide excision repair in ovarian cancer
por: Ishibashi, Masumi, et al.
Publicado: (2018)

Association between fat mass index, fat‐free mass index and hemoglobin A1c in a Japanese population: The Tohoku Medical Megabank Community‐based Cohort Study
por: Takase, Masato, et al.
Publicado: (2021)

A genotype imputation method for de-identified haplotype reference information by using recurrent neural network
por: Kojima, Kaname, et al.
Publicado: (2020)

Genome-wide Association Study of Axial Length in Population-based Cohorts in Japan: The Tohoku Medical Megabank Organization Eye Study
por: Fuse, Nobuo, et al.
Publicado: (2022)

A case of a woman with late-pregnancy-onset DKA who had normal glucose tolerance in the first trimester
por: Himuro, Hiromi, et al.
Publicado: (2014)

Construction of JRG (Japanese reference genome) with single-molecule real-time sequencing
por: Nagasaki, Masao, et al.
Publicado: (2019)

Studies on sea snake venom
por: TAMIYA, Nobuo, et al.
Publicado: (2011)

Liquid biopsy with droplet digital PCR targeted to specific mutations in plasma cell-free tumor DNA can detect ovarian cancer recurrence earlier than CA125
por: Minato, Takamichi, et al.
Publicado: (2021)

Brain White Matter Abnormality in a Newborn Infant with Congenital Adrenal Hyperplasia
por: Kaga, Akimune, et al.
Publicado: (2013)

A follow-up during puberty in a Japanese girl with type A insulin resistance due to a novel mutation in INSR
por: Saito-Hakoda, Akiko, et al.
Publicado: (2018)

Relationship Between Short Term Variability (STV) and Onset of Cerebral Hemorrhage at Ischemia–Reperfusion Load in Fetal Growth Restricted (FGR) Mice
por: Minato, Takahiro, et al.
Publicado: (2018)

Cannot write session to /tmp/vufind_sessions/sess_udtj51ga3pbjd0va3u25vuf4m5