Cargando…

SUN-035 Performance of Mutation Pathogenicity Prediction Tools on Missense Variants Associated with 46XY Disorders of Sex Development

INTRODUCTION: Single nucleotide variants (SNV) are the most common type of genetic variation among humans. The high-throughput sequencing methods increase the number of identified variants in the human genome but functional studies for disease-associated variants is laborious and time consuming. Dif...

Descripción completa

Detalles Bibliográficos
Autores principales:	Montenegro, Luciana, Lerario, Antonio, Nishi, Mirian, Mendonca, Berenice
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Endocrine Society 2019
Materias:	Genetics and Development (including Gene Regulation)
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6553019/ http://dx.doi.org/10.1210/js.2019-SUN-035

Ejemplares similares

SUN-709 MiR-200c Expression Profiles in Plasma of 46,XY DSD Patients of Unknown Etiology
por: Elias, Felipe Martins, et al.
Publicado: (2020)

SUN-031 Quantification of Pooled Libraries for Optimizing Cluster Density in Next Generation Sequencing
por: Narcizo, Amanda, et al.
Publicado: (2019)

SUN-712 Familial 46, XY Complete Female External Sex Development with a Non-Mosaic Inherited SRY Gene Variation
por: Vaiani, Elisa, et al.
Publicado: (2020)

SUN-710 Custom Panel to Diagnosis Genetic Endocrine Disorders in a Tertiary Academic Hospital
por: Cardoso, Lais Cavalca, et al.
Publicado: (2020)

SUN-041 Estrogen Pharmacogenetics in Patients with Turner Syndrome
por: Scalco, Renata, et al.
Publicado: (2019)

SUN-725 Clinical and Genetic Features of Families with Maternally Inherited Central Precocious Puberty
por: Tinano, Flávia Rezende, et al.
Publicado: (2020)

SUN-034 Genetic Diagnosis of Congenital Isolated or Combined Growth Hormone Deficiency by Massive Parallel Sequencing Using a Target Gene Panel
por: NAKAGUMA, MARILENA, et al.
Publicado: (2019)

Performance of mutation pathogenicity prediction tools on missense variants associated with 46,XY differences of sex development
por: Montenegro, Luciana R., et al.
Publicado: (2021)

Inherited Human XY Sex Reversal and Gonadal Neoplasia Due to Enhanced Formation of Non-Specific Enhanceosomes by an Architectural Transcription Factor
por: Chen, Yen-Shan, et al.
Publicado: (2021)

SUN-723 CDH2 Gene Analysis in a Cohort of Patients with Congenital Hypopituitarism
por: Kertsz, Renata, et al.
Publicado: (2020)

The Worldwide Landscape of Variants in the Androgen Receptor Gene Related to Androgen Insensitivity Syndrome: An Integrative Analysis
por: Batista, Rafael Loch, et al.
Publicado: (2021)

SUN-LB130 Identification of IGSF1 Ligands
por: Smith, Courtney L, et al.
Publicado: (2020)

SUN-719 The Impact of FOXA3 on Testicular Steroidogenesis
por: Kim, Hansle, et al.
Publicado: (2020)

SUN-043 Epigenetic Regulation of Aldosterone Synthase Gene by Potassium
por: Takeda, Yoshiyu, et al.
Publicado: (2019)

SUN-713 Prevalence of Renal Cysts in Patients with Carney Complex
por: Kamilaris, Crystal Dawn Chrysavgi, et al.
Publicado: (2020)

SUN-722 Liver Leptin Receptor Gene Network Moderates the Effects of Early Life Adversity on Anxiety and Depression Problems in Children and Adolescents
por: Sobreira de Lima, Randriely Merscher, et al.
Publicado: (2020)

SUN-039 Characterization of Human Adrenal Steroidogenesis during Fetal Development
por: Melau, Cecilie, et al.
Publicado: (2019)

SUN-045 Resilience in the Regulation of the Unfolded Protein Response across Tissues and Species
por: Soltanmohamadi, Elham, et al.
Publicado: (2019)

SUN-037 Diagnosis Challenge in Type 4 Familial Partial Lipodystrophic Syndrome
por: Vantyghem, Marie-Christine, et al.
Publicado: (2019)

SUN-049 Growth Hormone Deficiency Associated with a Rare Overgrowth Syndrome
por: Davis, Shanlee, et al.
Publicado: (2019)

SUN-044 Methylation Status and Gene Expression of Steroidogenic Enzymes in Benign Adrenocortical Tumors
por: Di Dalmazi, Guido, et al.
Publicado: (2019)

SUN-718 Reciprocal Regulation of miR-375 and ICER in Pancreatic Beta Cells
por: Frias, Stephanye, et al.
Publicado: (2020)

SUN-715 IIM May Influence Matured Oocytes’ DNA Methylation of PCOS Patients
por: Li, Congru, et al.
Publicado: (2020)

SUN-030 Expression Profiles of Short RNAs in Mouse Serum Employing Endocrine Organs as Controls
por: Habib, Tanwir, et al.
Publicado: (2019)

SUN-046 Identification of Clinical Predictors for Detection of Mutations in Multiple Endocrine Neoplasia Type 1
por: Urtremari, Betsaida, et al.
Publicado: (2019)

SUN-050 The Evolutionarily Conserved Function of COUP-TF Genes in the Differentiation of Photoreceptor Cells in the Retina
por: Zhu, Jian, et al.
Publicado: (2019)

SUN-LB008 Clinical Phenotype and Genotype Analysis of Short Stature Patients with Skeletal Dysplasia
por: Miao, Hui, et al.
Publicado: (2019)

SUN-LB133 Analysis of Clinical Characteristics and Gene Mutation in Four Cases of Gitelman Syndrome
por: Yao, Bin
Publicado: (2020)

SUN-032 Exome Sequencing Reveals that Pathogenic RET Variants Occur at Higher Prevalence Than Previously Recognized: Data from a US Health System Biobank
por: Guzman, Heidi, et al.
Publicado: (2019)

SUN-047 Germline and Somatic Mutations in DICER1 Gene Associated with Different Hereditary Tumours in Paediatric Patients
por: Trobo, Sofia, et al.
Publicado: (2019)

SUN-LB007 The Mouse AgRP Gene Has Three Promoters: Differential Regulation by Nutritional States
por: Ifebi, Bruno, et al.
Publicado: (2019)

SUN-029 Circular RNA Profile of Parathyroid Neoplasms: Analysis of Co-Expression Networks of Circular RNAs and mRNAs
por: Hu, Ya, et al.
Publicado: (2019)

SUN-048 Maternal Caloric Restriction during Pregnancy Activates the Nrf2 Antioxidant Program in Embryonic Mouse Liver
por: Chartoumpekis, Dionysios, et al.
Publicado: (2019)

SUN-717 SG-2 a Novel Multi-Target Directed Ligand (MTDL) for the Treatment of Neurodegenerative Diseases (NDDS)
por: Sestito, Simona, et al.
Publicado: (2020)

SUN-LB132 Frequency and Impact of Mutations in Tumor Suppressor Gene CDC73 in General Population and Malignant Tumors
por: Li, Yulong, et al.
Publicado: (2020)

SUN-LB006 Skeletal Muscle Krüppel-Like Factor 15 and PPARd Cooperate to Regulate Skeletal Muscle Lipid Metabolism
por: Fan, Liyan, et al.
Publicado: (2019)

SUN-036 SLC16A11 Gene Expression In Mothers With And Without Gestational Diabetes And Their Offspring Umbilical Cord Blood.
por: Marrero-Rodríguez, Daniel, et al.
Publicado: (2019)

SUN-042 Loss of the 18-Kda Translocator Protein Tspo Destabilizes Cholesterol Homeostasis in a Hepatic Steatosis Cell Model
por: Li, Yuchang, et al.
Publicado: (2019)

SUN-033 RNA-Seq Analysis of Ovariectomy-Induced Changes in Mouse Liver Reveals New Targets for Menopause-Associated Metabolic Derangement
por: Stokar, Joshua, et al.
Publicado: (2019)

SUN-040 Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy (APECED) Syndrome: Prospective Screening of Asplenism and Pneumonitis in a Cohort of 25 Patients
por: Humbert, Linda, et al.
Publicado: (2019)

Cannot write session to /tmp/vufind_sessions/sess_5b6vqlgbdd7kgtsokh3dbgjhvk