Phenotypic and genotypic landscape of PROKR2 in neuroendocrine disorders

Prokineticin receptor 2 (PROKR2) encodes for a G-protein-coupled receptor that can bind PROK1 and PROK2. Mice lacking Prokr2 have been shown to present abnormal olfactory bulb formation as well as defects in GnRH neuron migration. Patients carrying mutations in PROKR2 typically present hypogonadotro...

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Autores: Martínez Mayer, Julián Jorge, Pérez Millán, María Inés
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2023
País:Argentina
Institución:Consejo Nacional de Investigaciones Científicas y Técnicas
Repositorio:CONICET Digital (CONICET)
Idioma:inglés
OAI Identifier:oai:ri.conicet.gov.ar:11336/220263
Acceso en línea:http://hdl.handle.net/11336/220263
Access Level:acceso abierto
Palabra clave:FUNCTIONAL ASSAY
GENETIC DIAGNOSIS
HYPOGONADOTROPIC HYPOGONADISM
KALLMANN SYNDROME
PITUITARY
https://purl.org/becyt/ford/1.6
https://purl.org/becyt/ford/1
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spelling Phenotypic and genotypic landscape of PROKR2 in neuroendocrine disordersMartínez Mayer, Julián JorgePérez Millán, María InésFUNCTIONAL ASSAYGENETIC DIAGNOSISHYPOGONADOTROPIC HYPOGONADISMKALLMANN SYNDROMEPITUITARYhttps://purl.org/becyt/ford/1.6https://purl.org/becyt/ford/1Prokineticin receptor 2 (PROKR2) encodes for a G-protein-coupled receptor that can bind PROK1 and PROK2. Mice lacking Prokr2 have been shown to present abnormal olfactory bulb formation as well as defects in GnRH neuron migration. Patients carrying mutations in PROKR2 typically present hypogonadotropic hypogonadism, anosmia/hyposmia or Kallmann Syndrome. More recently variants in PROKR2 have been linked to several other endocrine disorders. In particular, several patients with pituitary disorders have been reported, ranging from mild phenotypes, such as isolated growth hormone deficiency, to more severe ones, such as septo-optic dysplasia. Here we summarize the changing landscape of PROKR2-related disease, the variants reported to date, and discuss their origin, classification and functional assessment.Fil: Martínez Mayer, Julián Jorge. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales. Instituto de Biociencias, Biotecnología y Biología Traslacional; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; ArgentinaFil: Pérez Millán, María Inés. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales. Departamento de Fisiología, Biología Molecular y Celular; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; ArgentinaFrontiers Media S.A.2023-02info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfapplication/pdfapplication/pdfhttp://hdl.handle.net/11336/220263Martínez Mayer, Julián Jorge; Pérez Millán, María Inés; Phenotypic and genotypic landscape of PROKR2 in neuroendocrine disorders; Frontiers Media S.A.; Frontiers in Endocrinology; 14; 2-2023; 1-71664-2392CONICET DigitalCONICETenginfo:eu-repo/semantics/altIdentifier/doi/10.3389/fendo.2023.1132787info:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by-nc-sa/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2024-05-08T13:38:39Zoai:ri.conicet.gov.ar:11336/220263instacron:CONICETInstitucionalhttp://ri.conicet.gov.ar/Organismo científico-tecnológicoNo correspondehttp://ri.conicet.gov.ar/oai/requestdasensio@conicet.gov.ar; lcarlino@conicet.gov.arArgentinaNo correspondeNo correspondeNo correspondeopendoar:34982024-05-08 13:38:39.975CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse
dc.title.none.fl_str_mv Phenotypic and genotypic landscape of PROKR2 in neuroendocrine disorders
title Phenotypic and genotypic landscape of PROKR2 in neuroendocrine disorders
spellingShingle Phenotypic and genotypic landscape of PROKR2 in neuroendocrine disorders
Martínez Mayer, Julián Jorge
FUNCTIONAL ASSAY
GENETIC DIAGNOSIS
HYPOGONADOTROPIC HYPOGONADISM
KALLMANN SYNDROME
PITUITARY
https://purl.org/becyt/ford/1.6
https://purl.org/becyt/ford/1
title_short Phenotypic and genotypic landscape of PROKR2 in neuroendocrine disorders
title_full Phenotypic and genotypic landscape of PROKR2 in neuroendocrine disorders
title_fullStr Phenotypic and genotypic landscape of PROKR2 in neuroendocrine disorders
title_full_unstemmed Phenotypic and genotypic landscape of PROKR2 in neuroendocrine disorders
title_sort Phenotypic and genotypic landscape of PROKR2 in neuroendocrine disorders
dc.creator.none.fl_str_mv Martínez Mayer, Julián Jorge
Pérez Millán, María Inés
author Martínez Mayer, Julián Jorge
author_facet Martínez Mayer, Julián Jorge
Pérez Millán, María Inés
author_role author
author2 Pérez Millán, María Inés
author2_role author
dc.subject.none.fl_str_mv FUNCTIONAL ASSAY
GENETIC DIAGNOSIS
HYPOGONADOTROPIC HYPOGONADISM
KALLMANN SYNDROME
PITUITARY
https://purl.org/becyt/ford/1.6
https://purl.org/becyt/ford/1
topic FUNCTIONAL ASSAY
GENETIC DIAGNOSIS
HYPOGONADOTROPIC HYPOGONADISM
KALLMANN SYNDROME
PITUITARY
https://purl.org/becyt/ford/1.6
https://purl.org/becyt/ford/1
description Prokineticin receptor 2 (PROKR2) encodes for a G-protein-coupled receptor that can bind PROK1 and PROK2. Mice lacking Prokr2 have been shown to present abnormal olfactory bulb formation as well as defects in GnRH neuron migration. Patients carrying mutations in PROKR2 typically present hypogonadotropic hypogonadism, anosmia/hyposmia or Kallmann Syndrome. More recently variants in PROKR2 have been linked to several other endocrine disorders. In particular, several patients with pituitary disorders have been reported, ranging from mild phenotypes, such as isolated growth hormone deficiency, to more severe ones, such as septo-optic dysplasia. Here we summarize the changing landscape of PROKR2-related disease, the variants reported to date, and discuss their origin, classification and functional assessment.
publishDate 2023
dc.date.none.fl_str_mv 2023-02
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
http://purl.org/coar/resource_type/c_6501
info:ar-repo/semantics/articulo
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv http://hdl.handle.net/11336/220263
Martínez Mayer, Julián Jorge; Pérez Millán, María Inés; Phenotypic and genotypic landscape of PROKR2 in neuroendocrine disorders; Frontiers Media S.A.; Frontiers in Endocrinology; 14; 2-2023; 1-7
1664-2392
CONICET Digital
CONICET
url http://hdl.handle.net/11336/220263
identifier_str_mv Martínez Mayer, Julián Jorge; Pérez Millán, María Inés; Phenotypic and genotypic landscape of PROKR2 in neuroendocrine disorders; Frontiers Media S.A.; Frontiers in Endocrinology; 14; 2-2023; 1-7
1664-2392
CONICET Digital
CONICET
dc.language.none.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv info:eu-repo/semantics/altIdentifier/doi/10.3389/fendo.2023.1132787
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
eu_rights_str_mv openAccess
rights_invalid_str_mv https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
dc.format.none.fl_str_mv application/pdf
application/pdf
application/pdf
dc.publisher.none.fl_str_mv Frontiers Media S.A.
publisher.none.fl_str_mv Frontiers Media S.A.
dc.source.none.fl_str_mv reponame:CONICET Digital (CONICET)
instname:Consejo Nacional de Investigaciones Científicas y Técnicas
instname_str Consejo Nacional de Investigaciones Científicas y Técnicas
reponame_str CONICET Digital (CONICET)
collection CONICET Digital (CONICET)
repository.name.fl_str_mv CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicas
repository.mail.fl_str_mv dasensio@conicet.gov.ar; lcarlino@conicet.gov.ar
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