Cargando…

OR15-3 Extreme Phenotypic Variability of a Novel Mutation of MEN1 Gene in a Family with 14 Carriers across 3 Generations

Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disease characterized by the development of tumoral lesions usually benign in different glands. The most common tumors involve the parathyroid, pituitary and endocrine pancreas. Over 1300 mutations of MEN1 gene have been identified...

Descripción completa

Detalles Bibliográficos
Autores principales:	Chaves, Carolina, Chaves, Mariana, Pereira, Bernardo, Silva, David, Saramago, Ana, Leite, Valeriano, Cavaco, Branca, Anselmo, Joao D T S, Cesar, Rui
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/PMC6554855/ http://dx.doi.org/10.1210/js.2019-OR15-3

Ejemplares similares

OR15-6 Epigenetic Differences in First Trimester Pregnancies Conceived with Infertility
por: Gonzalez, Tania, et al.
Publicado: (2019)

SUN-447 Screening of Genetic Alterations in Patients with Giant Prolactinomas
por: Chaves, Carolina, et al.
Publicado: (2019)

OR15-1 Identification and Functional Characterization of Tumor-specific X-linked Genes In Breast Cancer
por: Choudhari, Ramesh, et al.
Publicado: (2019)

OR15-5 Human Sex Determination at the Edge of Ambiguity: Impaired SRY Phosphorylation Attenuates Expression of the Male Program
por: Chen, Yen-Shan, et al.
Publicado: (2019)

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

OR15-2 A Novel Upstream Enhancer Acts Synergistically with GnRH and Activin to Increase FSHβ Transcription
por: Bohaczuk, Stephanie, et al.
Publicado: (2019)

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

OR15-4 Long-Term Follow-Up of a Female with a Mutation in the Estrogen Receptor Alpha (ESR1) Gene
por: Brakta, Soumia, et al.
Publicado: (2019)

SAT-718 Inhibition of Androgen Receptor Activity by DDE Is Affected by Mutations in the BF3 Site
por: Lozano, Andrea, et al.
Publicado: (2020)

SAT-712 Computational Study of the Effect of Androgen Receptor BF 3 Site Mutations on DDE Binding
por: Chowdhury, Muniruzzaman, et al.
Publicado: (2020)

SAT-723 Effects of Organohalogenated Endocrine Disrupting Chemicals on Cell Proliferation and Gene Expression in GH3 Somatolactotropes
por: Ringrose, Sophie, et al.
Publicado: (2020)

SAT-LB132 3-Generation Study of Metabolic Disruption by Pregnancy Serum PFASs: Associations With Abdominal and Whole-Body Obesity in Granddaughters in a 60-Year Follow-Up of the Child Health and Development Studies Cohort
por: Cohn, Barbara A, 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-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)

MON-716 A Novel Human Heterozygous STAT5B Variant Leads to Impaired Growth and Developmental Defects in Zebrafish Embryos
por: Landi, Estefania, et al.
Publicado: (2020)

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-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-035 Performance of Mutation Pathogenicity Prediction Tools on Missense Variants Associated with 46XY Disorders of Sex Development
por: Montenegro, Luciana, 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-045 Resilience in the Regulation of the Unfolded Protein Response across Tissues and Species
por: Soltanmohamadi, Elham, et al.
Publicado: (2019)

SUN-LB009 Epigenetic Changes in Response to Metabolic Modifiers in Late Life: Exercise, High Fat Diet, and Angiotenin1-7 Effects on Metabolic Health and DNA Methylation in Frail Old Mice
por: Shefer, Gabi, 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-044 Methylation Status and Gene Expression of Steroidogenic Enzymes in Benign Adrenocortical Tumors
por: Di Dalmazi, Guido, 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-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-LB007 The Mouse AgRP Gene Has Three Promoters: Differential Regulation by Nutritional States
por: Ifebi, Bruno, et al.
Publicado: (2019)

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-037 Diagnosis Challenge in Type 4 Familial Partial Lipodystrophic Syndrome
por: Vantyghem, Marie-Christine, 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-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-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)

SUN-049 Growth Hormone Deficiency Associated with a Rare Overgrowth Syndrome
por: Davis, Shanlee, 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-043 Epigenetic Regulation of Aldosterone Synthase Gene by Potassium
por: Takeda, Yoshiyu, et al.
Publicado: (2019)

SUN-039 Characterization of Human Adrenal Steroidogenesis during Fetal Development
por: Melau, Cecilie, 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-038 Role Of The Satb 1 Gene In Growth Across Species: Findings In A Cohort Of Patients With Short Stature And In A Knockout Zebrafish Model
por: Gutierrez Maria, Andrea, et al.
Publicado: (2019)

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

Cannot write session to /tmp/vufind_sessions/sess_j3p8blq8kl31sjl4ghjd6ap8tg