Cargando…

Combined pituitary hormone deficiency caused by PROP1 mutations: update 20 years post-discovery

The first description of patients with combined pituitary hormone deficiencies (CPHD) caused by PROP1 mutations was made 20 years ago. Here we updated the clinical and genetic characteristics of patients with PROP1 mutations and summarized the phenotypes of 14 patients with 7 different pathogenic PR...

Descripción completa

Detalles Bibliográficos
Autores principales:	Correa, Fernanda A., Nakaguma, Marilena, Madeira, João L. O., Nishi, Mirian Y., Abrão, Milena G., Jorge, Alexander A. L., Carvalho, Luciani R., Arnhold, Ivo J. P., Mendonça, Berenice B.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Sociedade Brasileira de Endocrinologia e Metabologia 2019
Materias:	Review
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10522137/ https://www.ncbi.nlm.nih.gov/pubmed/31090814 http://dx.doi.org/10.20945/2359-3997000000139

Ejemplares similares

OR06-6 Whole-Exome Sequencing of Patients with Pituitary Stalk Interruption Syndrome (PSIS) Reveals Probably Pathogenic Variants in Novel Candidate Genes.
por: Correa, Fernanda, 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)

PROP1 overexpression in corticotrophinomas: evidence for the role of PROP1 in the maintenance of cells committed to corticotrophic differentiation
por: Araujo, Ricardo V, et al.
Publicado: (2013)

OR08-1 PROP1 Is Not Essential For Pituitary Cells Terminal Differentiation
por: Carvalho, Luciani, et al.
Publicado: (2022)

FGFR1 and PROKR2 rare variants found in patients with combined pituitary hormone deficiencies
por: Correa, Fernanda A, et al.
Publicado: (2015)

Genetic diagnosis of congenital hypopituitarism by a target gene panel: novel pathogenic variants in GLI2, OTX2 and GHRHR
por: Nakaguma, Marilena, et al.
Publicado: (2019)

Successful Pregnancies After Adequate Hormonal Replacement in Patients With Combined Pituitary Hormone Deficiencies
por: Correa, Fernanda A., et al.
Publicado: (2017)

PROP1 and CTNNB1 expression in adamantinomatous craniopharyngiomas with or without β-catenin mutations
por: Cani, Carolina M.G., et al.
Publicado: (2011)

Desmopressin Test in Silent Corticothoph Pituitary Adenomas, a Preliminary Study - a Comparison With Cushing Disease
por: Huayllas, Martha Katherine, et al.
Publicado: (2021)

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

SAT-297 Pituitary Hormonal Levels and Gonadal Histology in the Pubertal Period of the Ames Mice
por: Silva, Juliana M, et al.
Publicado: (2020)

OR24-1 Structure-Function Analysis of Human OTX2 Variants Defines Required Region of C-Terminus for Pituitary, Eye, and Craniofacial Development
por: Bando, Hironori, et al.
Publicado: (2019)

Allelic Variants in Established Hypopituitarism Genes Expand Our Knowledge of the Phenotypic Spectrum
por: Nakaguma, Marilena, et al.
Publicado: (2021)

SUN-723 CDH2 Gene Analysis in a Cohort of Patients with Congenital Hypopituitarism
por: Kertsz, Renata, 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)

An activating mutation in the CRHR1 gene is rarely associated with pituitary-dependent hyperadrenocorticism in poodles
por: De-Marco, Viviani, et al.
Publicado: (2017)

Androgen insensitivity syndrome: a review
por: Batista, Rafael Loch, et al.
Publicado: (2018)

SAT-295 An Extremely Rare Novel Missense Variant C.912G≫A; P.M304I in SOX3 Gene Is Responsible for X-Linked GH Deficiency in a Brazilian Boy Without Mental Retardation
por: Benedetti, Anna Flavia Figueredo, et al.
Publicado: (2020)

The phenotypic spectrum associated with OTX2 mutations in humans
por: Gregory, Louise C, et al.
Publicado: (2021)

Growth hormone deficiency with advanced bone age: phenotypic interaction between GHRH receptor and CYP21A2 mutations diagnosed by sanger and whole exome sequencing
por: Correa, Fernanda A., et al.
Publicado: (2017)

SAT-217 A Spontaneous and Uneventful Pregnancy in a Turner Syndrome Patient with 45,X[22]/46,X,+Mar[2]/46,Xx[1] Mosaicism: Case Report and Literature Review
por: Scalco, Renata, et al.
Publicado: (2019)

PROP1 triggers epithelial-mesenchymal transition-like process in pituitary stem cells
por: Pérez Millán, María Inés, et al.
Publicado: (2016)

Identification of a Novel PROP1 Mutation in a Patient with Combined Pituitary Hormone Deficiency and Enlarged Pituitary
por: Penta, Laura, et al.
Publicado: (2019)

A GRFa2/Prop1/Stem (GPS) Cell Niche in the Pituitary
por: Garcia-Lavandeira, Montse, et al.
Publicado: (2009)

Search for regulatory factors of the pituitary-specific transcription factor PROP1 gene
por: NISHIMURA, Naoto, et al.
Publicado: (2015)

MON-295 Desmopressin Test in Silent Corticothoph Pituitary Adenomas, a Preliminary Study - a Comparison with Cushing Disease
por: Huayllas, Martha Katherine, et al.
Publicado: (2020)

SUN-018 Epigenetic Loss of the PIWI/piRNA Machinery in Gonadal Tumors in Androgen Insensitivity Syndrome
por: Batista, Rafael, et al.
Publicado: (2019)

SUN-252 Comparison of Sitting Height/Height Ratio for Age in Children with Short Stature Caused by Defects in Growth Plate Genes
por: Vasques, Gabriela, et al.
Publicado: (2019)

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

Involvement of DNA methylation in regulating rat Prop1 gene expression during pituitary organogenesis
por: NISHIHARA, Hiroto, et al.
Publicado: (2016)

Association of Homozygous PROP1 Mutation in a Saudi Family with Combined Pituitary Hormone Deficiency
por: Almatrafi, Ahmed M., et al.
Publicado: (2023)

MON-714 CRISPR / Cas9 Genomic Edition of the CDH2 Gene in Zebrafish Leads to Eye and Cardiac Malformation
por: Ventura, Bianca Helena, et al.
Publicado: (2020)

THU182 Widening The Spectrum Of ABCC8-related Disease: Insulin-mediated Pseudoacromegaly
por: Roza Machado, Iza Franklin, et al.
Publicado: (2023)

Pituitary Changes in Prop1 Transgenic Mice: Hormone Producing Tumors and Signet-ring Type Gonadotropes
por: Egashira, Noboru, et al.
Publicado: (2008)

Testing of Adrenal Axis Function in Patients With Combined Pituitary Hormone Deficiency Caused by PROP1 Mutation
por: Gilis-Januszewska, Aleksandra, et al.
Publicado: (2021)

SAT-LB58 Molecular Investigation of Recessive Inheritance by Exome Sequencing of Patients With Congenital Hypopituitarism
por: Pereira Ferreira, Nathalia Garcia Bianchi, et al.
Publicado: (2020)

Cushing disease due to a somatic USP8 mutation in a patient with evolving pituitary hormone deficiencies due to a germline GH1 splicing variant
por: Labello, Julia Haddad, et al.
Publicado: (2022)

RF01 | PMON46 Regulation of the Pituitary Cell Lineage Regulator Prop1 by the Stem Cell Determinant Musashi
por: Banik, Jewel, et al.
Publicado: (2022)

An Update on Pituitary Neuroendocrine Tumors Leading to Acromegaly and Gigantism
por: Asa, Sylvia L., et al.
Publicado: (2021)

Mutation analysis of NANOS3 in Brazilian women with primary ovarian failure
por: Sousa, Braian Lucas A, et al.
Publicado: (2016)

Cannot write session to /tmp/vufind_sessions/sess_sdkllub88956ceb2ht2t432qsq