Výsledky vyhledávání - "Alfonso Hisado-Oliva"

Akademický článek

NPPB and ACAN, two novel SHOX2 transcription targets implicated in skeletal development.

Autor: Miriam Aza-Carmona, Veronica Barca-Tierno, Alfonso Hisado-Oliva, Alberta Belinchón, Darya Gorbenko-del Blanco, Jose Ignacio Rodriguez, Sara Benito-Sanz, Angel Campos-Barros, Karen E Heath

Publikováno v: PLoS ONE, Vol 9, Iss 1, p e83104 (2014)

SHOX and SHOX2 transcription factors are highly homologous, with even identical homeodomains. Genetic alterations in SHOX result in two skeletal dysplasias; Léri-Weill dyschondrosteosis (LWD) and Langer mesomelic dysplasia (LMD), while no human gene

Externí odkaz: https://doaj.org/article/89a138f2f118481c9cfa442111c15dd6

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Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature

Publikováno v: Genetics in Medicine
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid

Purpose Short stature is a common condition of great concern to patients and their families. Mostly genetic in origin, the underlying cause often remains elusive due to clinical and genetic heterogeneity. Methods We systematically phenotyped 565 pati

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::17d56a082a3f88f6b9743b3f132352fa
http://europepmc.org/articles/PMC5993671

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Broadening the phenotypic spectrum of POP1-skeletal dysplasias: identification of POP1 mutations in a mild and severe skeletal dysplasia

Autor: Emma L. Duncan, A. Belinchón-Martínez, Jimena Barraza-García, Graeme R. Clark, P. Prieto-Matos, Karen E. Heath, K. Ibáñez-Garikano, Carlos I. Rivera-Pedroza, Amaka C. Offiah, Lucia Sentchordi-Montané, Alfonso Hisado-Oliva, Valérie Cormier-Daire, A. del Pozo

Publikováno v: Clinical Genetics. 92:91-98

Processing of Precursor 1 (POP1) is a large protein common to the ribonuclease-mitochondrial RNA processing (RNase-MRP) and RNase-P (RMRP) endoribonucleoprotein complexes. Although its precise function is unknown, it appears to participate in the ass

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::cff20b8eccc77da302f6d7284704161e
https://doi.org/10.1111/cge.12964

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Mutations in C-natriuretic peptide (NPPC): a novel cause of autosomal dominant short stature

Autor: Carolina Bezanilla-López, Miriam Aza-Carmona, Jimena Barraza-García, Maria Rodriguez-Zabala, Karen E. Heath, Antonio M. Lerario, Lucia Sentchordi, Alfonso Hisado-Oliva, Marta Alonso-Bernáldez, Alba Ruzafa-Martin, Sara Benito-Sanz, Mariana F A Funari, Angel Campos-Barros, Alexander A. L. Jorge

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics. 20(1)

PurposeC-type natriuretic peptide (CNP) and its principal receptor, natriuretic peptide receptor B (NPR-B), have been shown to be important in skeletal development. CNP and NPR-B are encoded by natriuretic peptide precursor-C (NPPC) and natriuretic p

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c8f8080010da573e6c82ab541ce637cf
https://pubmed.ncbi.nlm.nih.gov/28661490

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Long-term response to growth hormone therapy in a patient with short stature caused by a novel heterozygous mutation in NPR2

Autor: Alexander A. L. Jorge, Antonio M. Lerario, Mariana F A Funari, Gabriela A Vasques, Karen E. Heath, Elisangela P S Quedas, Paulo Solberg, Alfonso Hisado-Oliva

Publikováno v: Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP

Background Heterozygous loss-of-function mutations in the natriuretic peptide receptor B gene (NPR2) are responsible for short stature in patients without a distinct phenotype. Some of these patients have been treated with recombinant human growth ho

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::52de9f445f17ad12576ef5da309b090f
https://pubmed.ncbi.nlm.nih.gov/27941173

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Heterozygous NPR2 Mutations Cause Disproportionate Short Stature, Similar to Léri-Weill Dyschondrosteosis

Autor: Sara Benito-Sanz, Gianni Carlone, Alfonso Hisado-Oliva, Joaquin Ramirez, Ana C Barreda-Bonis, Gabriela A Vasques, Isabel González-Casado, Alberta Belinchón, Angel Campos-Barros, Alexander A. L. Jorge, Fabiola Santaolalla-Caballero, Cristina Luzuriaga, Ana Isabel Garre-Vazquez, Karen E. Heath

Publikováno v: The Journal of clinical endocrinology and metabolism. 100(8)

SHOX mutations have been detected in approximately 70% of Léri-Weill dyschondrosteosis (LWD) and approximately 2.5% of idiopathic short stature (ISS) cases, suggesting the implication of other genes or loci. The recent identification of NPR2 mutatio

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f51743539f141c2a60f9fd43aac477df
https://pubmed.ncbi.nlm.nih.gov/26075495

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NPPB and ACAN, two novel SHOX2 transcription targets implicated in skeletal development

Autor: Alfonso Hisado-Oliva, Sara Benito-Sanz, Darya Gorbenko del Blanco, Karen E. Heath, Alberta Belinchón, Verónica Barca-Tierno, Angel Campos-Barros, José Ignacio Rodríguez, Miriam Aza-Carmona

Publikováno v: PLoS ONE, Vol 9, Iss 1, p e83104 (2014)
Recercat. Dipósit de la Recerca de Catalunya
instname
PLoS ONE
Dipòsit Digital de la UB
Universidad de Barcelona

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2c1336e2620440a04b5e47f613dad090
https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/24421874/?tool=EBI

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SHOX interacts with the chondrogenic transcription factors SOX5 and SOX6 to activate the aggrecan enhancer

Autor: Peter J. Scambler, Jesús Argente, Verónica Barca-Tierno, Alberta Belinchón, Debbie Shears, Angel Campos-Barros, Miriam Aza-Carmona, Karen E. Heath, Patricia Yuste-Checa, Sara Benito-Sanz, Alfonso Hisado-Oliva, J. Ignacio Rodríguez

Publikováno v: Human molecular genetics. 20(8)

SHOX (short stature homeobox-containing gene) encodes a transcription factor implicated in skeletal development. SHOX haploinsufficiency has been demonstrated in Leri-Weill dyschondrosteosis (LWD), a skeletal dysplasia associated with disproportionat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1b5f7babbc434e7683d4c371a970d5d8
https://pubmed.ncbi.nlm.nih.gov/21262861

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Clinical and molecular evaluation of SHOX/PAR1 duplications in Leri-Weill dyschondrosteosis (LWD) and idiopathic short stature (ISS)

Autor: Angel Campos-Barros, Alfonso Hisado-Oliva, Karen E. Heath, Andrew R. Zinn, María Caimari, Judith L. Ross, Eva Barroso, Damian Heine-Suñer, Pablo Lapunzina, Ricardo Gracia, Jordi Rosell, A. Aragones, Jesús Argente, Valeria Romanelli, Sara Benito-Sanz

Publikováno v: The Journal of clinical endocrinology and metabolism. 96(2)

Context: Léri-Weill dyschondrosteosis (LWD) is a skeletal dysplasia characterized by disproportionate short stature and the Madelung deformity of the forearm. SHOX mutations and pseudoautosomal region 1 deletions encompassing SHOX or its enhancers h

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8cfbd9fac46240de34c593a3331aeaf7
https://pubmed.ncbi.nlm.nih.gov/21147883

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