Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Monica Fernandez-Cancio"'
Autor:
Lukas Burget, Laura Audí Parera, Monica Fernandez-Cancio, Rolf Gräni, Christoph Henzen, Christa E Flück
Publikováno v:
Endocrinology, Diabetes & Metabolism Case Reports, Vol 1, Iss 1, Pp 1-4 (2018)
Steroidogenic acute regulatory protein (STAR) is a key protein for the intracellular transport of cholesterol to the mitochondrium in endocrine organs (e.g. adrenal gland, ovaries, testes) and essential for the synthesis of all steroid hormones. Seve
Externí odkaz:
https://doaj.org/article/8385655384f6433a8b17f6dfb8f175f9
Autor:
Mónica Fernández-Cancio, María Antolín, María Clemente, Ariadna Campos-Martorell, Eduard Mogas, Noelia Baz-Redón, Jordi Leno-Colorado, Gemma Comas-Armangué, Elena García-Arumí, Laura Soler-Colomer, Núria González-Llorens, Núria Camats-Tarruella, Diego Yeste
Publikováno v:
Frontiers in Endocrinology, Vol 15 (2024)
IntroductionDefects in any thyroid hormone synthesis steps cause thyroid dyshormonogenesis (THD). THD due to thyroglobulin (TG) gene variants is a cause of congenital hypothyroidism (CH) with a wide clinical spectrum, ranging from mild to severe perm
Externí odkaz:
https://doaj.org/article/488622cb30184b09bcb312808aad3740
Autor:
Diego Yeste, Noelia Baz-Redón, María Antolín, Elena Garcia-Arumí, Eduard Mogas, Ariadna Campos-Martorell, Núria González-Llorens, Cristina Aguilar-Riera, Laura Soler-Colomer, María Clemente, Mónica Fernández-Cancio, Núria Camats-Tarruella
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 18, p 10032 (2024)
Genetic defects in the TSH receptor (TSHR) can cause poor thyroid differentiation (thyroid dysgenesis) and/or thyroid malfunction (thyroid dyshormonogenesis). The phenotype spectrum is wide: from severe congenital hypothyroidism to mild hyperthyrotro
Externí odkaz:
https://doaj.org/article/6db32d13fde146ef804b06517a220881
Autor:
Noelia Baz-Redón, María Antolín, María Clemente, Ariadna Campos, Eduard Mogas, Mónica Fernández-Cancio, Elisenda Zafon, Elena García-Arumí, Laura Soler, Núria González-Llorens, Cristina Aguilar-Riera, Núria Camats-Tarruella, Diego Yeste
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 15, p 8473 (2024)
Thyroid dyshormonogenesis (THD) is a heterogeneous group of genetic diseases caused by the total or partial defect in the synthesis or secretion of thyroid hormones. Genetic variants in DUOX2 can cause partial to total iodination organification defec
Externí odkaz:
https://doaj.org/article/5aad576b04f343ee948ea345c6334141
Autor:
Noelia Baz-Redón, Laura Sánchez-Bellver, Mónica Fernández-Cancio, Sandra Rovira-Amigo, Thomas Burgoyne, Rai Ranjit, Virginia Aquino, Noemí Toro-Barrios, Rosario Carmona, Eva Polverino, Maria Cols, Antonio Moreno-Galdó, Núria Camats-Tarruella, Gemma Marfany
Publikováno v:
Cells, Vol 13, Iss 6, p 524 (2024)
We report a novel RPGR missense variant co-segregated with a familial X-linked retinitis pigmentosa (XLRP) case. The brothers were hemizygous for this variant, but only the proband presented with primary ciliary dyskinesia (PCD). Thus, we aimed to el
Externí odkaz:
https://doaj.org/article/b269912dace343959872be6b3a0e8664
Autor:
Noelia Baz-Redón, Laura Soler-Colomer, Mónica Fernández-Cancio, Sara Benito-Sanz, Marta Garrido, Teresa Moliné, María Clemente, Núria Camats-Tarruella, Diego Yeste
Publikováno v:
Frontiers in Endocrinology, Vol 13 (2022)
The palmitoylation of the Hedgehog (Hh) family of morphogens, named sonic hedgehog (SHH), desert hedgehog (DHH), and Indian hedgehog (IHH), is crucial for effective short- and long-range signaling. The hedgehog acyltransferase (HHAT) attaches the pal
Externí odkaz:
https://doaj.org/article/454ccb56ce014be6b7ec13e3e295643d
Autor:
Antonio Carrascosa, Diego Yeste, Antonio Moreno-Galdó, Miquel Gussinyé, Ángel Ferrández, María Clemente, Mónica Fernández-Cancio
Publikováno v:
Anales de Pediatría, Vol 89, Iss 3, Pp 137-143 (2018)
Resumen: Introducción: Hasta el momento no se han comunicado valores del índice de masa corporal (IMC) ni del índice de masa triponderal (IMT) de niños sanos sin malnutrición ni obesidad de la generación del milenio. Nuestro objetivo fue obtene
Externí odkaz:
https://doaj.org/article/45d310f669984a1db991911b54ae2afd
Autor:
Antonio Carrascosa, Diego Yeste, Antonio Moreno-Galdó, Miquel Gussinyé, Ángel Ferrández, María Clemente, Mónica Fernández-Cancio
Publikováno v:
Anales de Pediatría, Vol 89, Iss 3, Pp 144-152 (2018)
Resumen: Introducción: El patrón de crecimiento puberal varía según la edad de inicio del brote de crecimiento puberal, que ocurre dentro de un período de 5 años (mujeres: 8-13 años; varones: 10-15 años). Se ha propuesto la necesidad de utili
Externí odkaz:
https://doaj.org/article/f5881c477afb4462bc17915c64162294
Autor:
Antonio Carrascosa, Diego Yeste, Antonio Moreno-Galdó, Miquel Gussinyé, Ángel Ferrández, María Clemente, Mónica Fernández-Cancio
Publikováno v:
Anales de Pediatría (English Edition), Vol 89, Iss 3, Pp 137-143 (2018)
Introduction: Body mass index-for age (BMI) and tri-ponderal mass index-for-age (TMI) values of healthy non-underweight, non-obese millennial children have not been reported until now. We aimed to obtain these values. Subjects and methods: Longitudin
Externí odkaz:
https://doaj.org/article/4719c3152db74b538df5978e07538c76
Autor:
Antonio Carrascosa, Diego Yeste, Antonio Moreno-Galdó, Miquel Gussinyé, Ángel Ferrández, María Clemente, Mónica Fernández-Cancio
Publikováno v:
Anales de Pediatría (English Edition), Vol 89, Iss 3, Pp 144-152 (2018)
Introduction: Pubertal growth pattern differs according to age at pubertal growth spurt onset which occurs over a five years period (girls: 8–13 years, boys: 10–15 years). The need for more than one pubertal reference pattern has been proposed. W
Externí odkaz:
https://doaj.org/article/f5793caf2ccb437286652b901c83f19b