Zobrazeno 1 - 10 of 85 pro vyhledávání: '"Nkx2"'
1
Altered pituitary morphology as a sign of benign hereditary chorea caused by TITF1/NKX2.1 mutations
Autor: Steffi Thust, Liana Veneziano, Michael H. Parkinson, Kailash P. Bhatia, Elide Mantuano, Cristina Gonzalez-Robles, Indran Davagnanam, Paola Giunti
Publikováno v: Neurogenetics (Oxf., Print) 23 (2022): 91–102. doi:10.1007/s10048-021-00680-3
info:cnr-pdr/source/autori:Thust, Steffi; Veneziano, Liana; Parkinson, Michael H.; Bhatia, Kailash P.; Mantuano, Elide; Gonzalez-Robles, Cristina; Davagnanam, Indran; Giunti, Paola/titolo:Altered pituitary morphology as a sign of benign hereditary chorea caused by TITF1%2FNKX2.1 mutations/doi:10.1007%2Fs10048-021-00680-3/rivista:Neurogenetics (Oxf., Print)/anno:2022/pagina_da:91/pagina_a:102/intervallo_pagine:91–102/volume:23
Benign hereditary chorea (BHC) is a rare genetically heterogeneous movement disorder, in which conventional neuroimaging has been reported as normal in most cases. Cystic pituitary abnormalities and features of empty sella have been described in only
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9c46eaf06bf0ee1c4795b27d23164fb1
https://doi.org/10.1007/s10048-021-00680-3
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2
Development of ventricular trabeculae affects electrical conduction in the early endothermic heart
Autor: Veronika Olejnickova, Peter Uriel Hamor, Jiri Janacek, Martin Bartos, Eva Zabrodska, Barbora Sankova, Alena Kvasilova, Hana Kolesova, David Sedmera
Publikováno v: Developmental Dynamics AHEAD OF PRINT,. (2022)
The ventricular trabeculae play a role, among others, in the impulse spreading in ectothermic hearts. Despite the morphological similarity with the early developing hearts of endotherms, this trabecular function in mammalian and avian embryos was poo
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4b28171f2c1fd68cb571847e60fbdfa1
https://doi.org/10.1002/dvdy.552
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4
Pulmonary Hemorrhage in a Patient with Brain-Lung-Thyroid Syndrome Caused by a p.T86fs Variant in the NKX2-1 Gene
Autor: Nina Marić, Olivera Ljuboja
Publikováno v: The Central European Journal of Paediatrics. 16:155-160
O bjective - Brain-lung-thyroid syndrome is a rare disorder caused by mutations in the NKX2-1 gene. The syndrome is character- ized by neonatal respiratory distress, choreoathetosis and hypothyroidism, but the clinical spectrum and severity of sympto
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::41a7b1eabbbc5059bbd7bd83de03efbd
https://doi.org/10.5457/p2005-114.271
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5
Does PAX7 and NKX2.2 immunoreactivity in Ewing sarcoma have prognostic significance?
Autor: Machado I, Charville G, Yoshida A, Navarro S, Righi A, Gambarotti M, Scotlandi K, Lopez-Guerrero J, Llombart-Bosch A
Publikováno v: VIRCHOWS ARCHIV
r-INCLIVA. Repositorio Institucional de Producción Científica de INCLIVA
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Ewing sarcoma (ES) is an aggressive neoplasm with variable morphology. It has no specific immunoprofile or molecular signature. Neither CD99, NKX2.2 nor PAX7 immunoreactivity alone is completely specific, although diagnostic specificity improves when
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::3889e213232a8a63f5d5c2d0fb69a954
https://www.fundanet.incliva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=16391
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6
Identification of The Downregulation of TPD52-Like3 Gene and NKX2-1 Gene in Type 2 Diabetes Mellitus Via RNA Sequencing
Autor: Rob N M Weijers
Publikováno v: Archives of Diabetes & Obesity. 3
In an earlier study, it was proposed that the final consequence of hereditary anomaly results in the development of type 2 diabetes...
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::95f29bd48050c237ecc5cf4acf703cca
https://doi.org/10.32474/ado.2020.03.000156
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7
Neuronal tangential migration from Nkx2.1-positive hypothalamus
Autor: Murcia-Ramon R, Company V, Juarez-Leal I, Andreu-Cervera A, Almagro-Garcia F, Martinez S, Echevarria D, Puelles E
Publikováno v: BRAIN STRUCTURE & FUNCTION
r-ISABIAL. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica y Sanitaria de Alicante
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Brain Structure & Function
r-INCLIVA. Repositorio Institucional de Producción Científica de INCLIVA
During the development of the central nervous system, the immature neurons suffer different migration processes. It is well known that Nkx2.1-positive ventricular layer give rise to critical tangential migrations into different regions of the develop
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::066c1e21a6f2aff89d7c67bb40b122e8
https://fundanet.isabial.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=8669
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9
Solid Cell Nests Hyperplasia (Ultimobranchial Body Remnants) of the Thyroid: A Pitfall
Autor: A Khan, H Bharadwaj
Publikováno v: American Journal of Clinical Pathology. 156:S51-S51
Introduction/Objective Solid cell nests (SCN) are small epithelial cell nests interspersed within thyroid parenchyma, resembling squamous/transitional epithelium. SCNs, which are ultimobranchial remnants, are popularly considered pluripotent stem-cel
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::044652bb2accd543b18c7ec536b2205b
https://doi.org/10.1093/ajcp/aqab191.103
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10
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