Cargando…

Association of an APBA3 Missense Variant with Risk of Premature Ovarian Failure in the Korean Female Population

Premature ovarian failure (POF) is a complex disease of which the etiology is influenced by numerous genetic variations. Several POF candidate genes have been reported. However, no causal genes with high odds ratio (OR) have yet been discovered. This study included 564 females of Korean ethnicity, c...

Descripción completa

Detalles Bibliográficos
Autores principales:	Park, JeongMan, Park, YoungJoon, Koh, Insong, Kim, Nam Keun, Baek, Kwang-Hyun, Yun, Bo-Seong, Lee, Kyung Ju, Song, Jae Yun, Lee, Eunil, Kwack, KyuBum
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2020
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7720130/ https://www.ncbi.nlm.nih.gov/pubmed/33114509 http://dx.doi.org/10.3390/jpm10040193

Ejemplares similares

Identification of potential causal variants for premature ovarian failure by whole exome sequencing
por: Jin, Haengun, et al.
Publicado: (2020)

Downregulation of LOC441461 Promotes Cell Growth and Motility in Human Gastric Cancer
por: Lee, Sang-soo, et al.
Publicado: (2022)

Diplotyper: diplotype-based association analysis
por: Kim, Sunshin, et al.
Publicado: (2013)

Interaction between thyroglobulin and ADAMTS16 in premature ovarian failure
por: Pyun, Jung-A, et al.
Publicado: (2014)

Interaction Effects of Lipoprotein Lipase Polymorphisms with Lifestyle on Lipid Levels in a Korean Population: A Cross-sectional Study
por: Pyun, Jung-A, et al.
Publicado: (2012)

CeRNA Network Analysis Representing Characteristics of Different Tumor Environments Based on 1p/19q Codeletion in Oligodendrogliomas
por: Ahn, Ju Won, et al.
Publicado: (2020)

Correction: Ahn, J.W., et al. CeRNA Network Analysis Representing Characteristics of Different Tumor Environments Based on 1p/19q Codeletion in Oligodendrogliomas. Cancers 2020, 12, 2543
por: Ahn, Ju Won, et al.
Publicado: (2021)

Sex-specific differences in the association of a common aldehyde dehydrogenase 2 gene polymorphism and alcohol consumption with stroke risk in a Korean population: a prospective cohort study
por: Shin, Chol, et al.
Publicado: (2015)

Upregulation of the NLRC4 inflammasome contributes to poor prognosis in glioma patients
por: Lim, Jaejoon, et al.
Publicado: (2019)

Role of RGMc as a Neogenin Ligand in Follicular Development in the Ovary
por: Kim, Yu Jin, et al.
Publicado: (2021)

Yeast-based assays for characterization of the functional effects of single nucleotide polymorphisms in human DNA repair genes
por: Kim, Changshin, et al.
Publicado: (2018)

Functional Validation of Rare Human Genetic Variants Involved in Homologous Recombination Using Saccharomyces cerevisiae
por: Lee, Min-Soo, et al.
Publicado: (2015)

Analysis of unmapped regions associated with long deletions in Korean whole genome sequences based on short read data
por: Lee, Yuna, et al.
Publicado: (2019)

Natural Killer Cell Therapy: A New Treatment Paradigm for Solid Tumors
por: Oh, Sooyeon, et al.
Publicado: (2019)

Pilot Study of a Next-Generation Sequencing-Based Targeted Anticancer Therapy in Refractory Solid Tumors at a Korean Institution
por: Park, Hyung Soon, et al.
Publicado: (2016)

A Disintegrin and Metalloproteinase 9 (ADAM9) in Advanced Hepatocellular Carcinoma and Their Role as a Biomarker During Hepatocellular Carcinoma Immunotherapy
por: Oh, Sooyeon, et al.
Publicado: (2020)

Partial duplication of the APBA2 gene in chromosome 15q13 corresponds to duplicon structures
por: Sutcliffe, James S, et al.
Publicado: (2003)

Nitric oxide synthase Type II expression by different cell types in MHV-JHM encephalitis suggests distinct roles for nitric oxide in acute versus persistent virus infection
por: Grzybicki, Dana M, et al.
Publicado: (1997)

Autologous adoptive immune-cell therapy elicited a durable response with enhanced immune reaction signatures in patients with recurrent glioblastoma: An open label, phase I/IIa trial
por: Lim, Jaejoon, et al.
Publicado: (2021)

A rare autism-associated MINT2/APBA2 mutation disrupts neurexin trafficking and synaptic function
por: Lin, Amy Y., et al.
Publicado: (2019)

Screening study for genetic polymorphisms affecting pharmacokinetics of talniflumate
por: Jin, Li Hua, et al.
Publicado: (2017)

Role of Nuclear-Receptor-Related 1 in the Synergistic Neuroprotective Effect of Umbilical Cord Blood and Erythropoietin Combination Therapy in Hypoxic Ischemic Encephalopathy
por: Choi, Joo-Wan, et al.
Publicado: (2022)

The Genetic Effect of Copy Number Variations on the Risk of Type 2 Diabetes in a Korean Population
por: Bae, Joon Seol, et al.
Publicado: (2011)

Vitamin D and Exercise Are Major Determinants of Natural Killer Cell Activity, Which Is Age- and Gender-Specific
por: Oh, Sooyeon, et al.
Publicado: (2021)

Mint3/Apba3 depletion ameliorates severe murine influenza pneumonia and macrophage cytokine production in response to the influenza virus
por: Uematsu, Takayuki, et al.
Publicado: (2016)

A transcriptional complex composed of ER(α), GATA3, FOXA1 and ELL3 regulates IL-20 expression in breast cancer cells
por: Lee, Jae Yong, et al.
Publicado: (2017)

A designable aminophenylboronic acid functionalized magnetic Fe(3)O(4)/ZIF-8/APBA for specific recognition of glycoproteins and glycopeptides
por: Li, Shanshan, et al.
Publicado: (2018)

The association between Korean workers’ presenteeism and psychosocial factors within workplaces
por: Cho, Yun-Sik, et al.
Publicado: (2016)

A Novel Missense Mutation of Doublecortin: Mutation Analysis of Korean Patients with Subcortical Band Heterotopia
por: Kim, Myeong-Kyu, et al.
Publicado: (2005)

Clinical Characteristics and Features of Frequent Idiopathic Ventricular Premature Complexes in the Korean Population
por: Hwang, Jin Kyung, et al.
Publicado: (2015)

A Statistical Analysis of Superior Orbital Fissure Width in Korean Adults using Computed Tomography Scans
por: Park, Yongsik, et al.
Publicado: (2017)

CT and MR for bone mineral density and trabecular bone score assessment in osteoporosis evaluation
por: Lee, Haein, et al.
Publicado: (2023)

The attitudes of Korean medical students toward patient safety
por: Park, Kwi Hwa, et al.
Publicado: (2019)

Transcriptomic Landscape of Lower Grade Glioma Based on Age-Related Non-Silent Somatic Mutations
por: Park, YoungJoon, et al.
Publicado: (2021)

Genotype-phenotype analysis of von Hippel-Lindau syndrome in Korean families: HIF-α binding site missense mutations elevate age-specific risk for CNS hemangioblastoma
por: Lee, Jee-Soo, et al.
Publicado: (2016)

Potential of Hematologic Parameters in Predicting Mortality of Patients with Traumatic Brain Injury
por: Kim, Sol Bi, et al.
Publicado: (2022)

A Review of Skin Banking Guidelines and Standards Worldwide: Towards the Harmonization of Guidelines for Skin Banking in Therapeutic Applications for the Regions under the Asia Pacific Burn Association (APBA)
por: Heng, Wee Ling, et al.
Publicado: (2020)

Jervell and Lange-Nielsen Syndrome: Novel Compound Heterozygous Mutations in the KCNQ1 in a Korean Family
por: Baek, Jae Suk, et al.
Publicado: (2010)

The association between Korean employed workers’ on-call work and health problems, injuries
por: Baek, Chulin, et al.
Publicado: (2018)

Real-world survival after colorectal surgery for malignancy in Korean patients with chronic kidney disease: an analysis of Korean healthcare big data, 2002–2019
por: Song, Inho, et al.
Publicado: (2023)

Cannot write session to /tmp/vufind_sessions/sess_7fk5a9g785fqr6ajiu0h2j5r00