Hepatology, EarlyView., 2022 Natural history of liver disease in a large international cohort of children with Alagille syndrome: Results from the GALA study. Abstract Background and Aims Alagille syndrome (ALGS) is a multisystem disorder, characterized by cholestasis. Existing outcome data are largely derived from tertiary centers, and real‐world data are lacking.
Shannon M. Vandriel +93 more
wiley +1 more source
AIRE variations in Addison's disease and autoimmune polyendocrine syndromes (APS):partial gene deletions contribute to APS I [PDF]
, 2008 Udgivelsesdato: MarAutoimmune Addison's disease (AAD) is often associated with other components in autoimmune polyendocrine syndromes (APS). Whereas APS I is caused by mutations in the AIRE gene, the susceptibility genes for AAD and APS II are unclear ...
Bruland, O +8 more
core +1 more source
El cielo único europeo, implicaciones para la defensa
Arbor: Ciencia, Pensamiento y Cultura, 2002 Su autor nos presenta un tema de gran actualidad y que posiblemente deberá ser tratado durante la Presidencia española de la Unión (primer semestre de 2002), a fin de conseguir que el llamado «Cielo Único Europeo» sea una realidad en diciembre de 2004 ...
Enrique Pina Díaz
doaj +1 more source
Post-Aire Maturation of Thymic Medullary Epithelial Cells Involves Selective Expression of Keratinocyte-Specific Autoantigens [PDF]
, 2012 Extent: 16p.The autoimmune regulator (Aire)-directed ectopic expression of tissue-specific antigens (TSAs) by mature medullary thymic epithelial cells (mTECs) has been viewed as an essential mechanism in the induction of central tolerance.
Xiaoping eWang +6 more
core +1 more source
AIRE acetylation and deacetylation: effect on protein stability and transactivation activity [PDF]
, 2014 The AIRE protein plays a remarkable role as a regulator of central tolerance by controlling the promiscuous expression of tissue-specific antigens in thymic medullary epithelial cells.
Alessandra Meloni +7 more
core +2 more sources
Llorona de agua y duende de aire: el cronotopo en la narrativa plural de dos leyendas colombianas
Estudios de Literatura Colombiana, 2021 Este trabajo crítico analizará dos leyendas recogidas en el municipio de Susacón (Boyacá) a la luz del concepto de cronotopo desarrollado por Mijail Bajtín [1937], con el fin de develar algunos elementos simbólicos de la construcción cultural de lo ...
José Inocencio Becerra Lagos +1 more
doaj +1 more source
Midlatitude ClO during the maximum atmospheric chlorine burden : in situ balloon measurements and model simulations [PDF]
, 2005 Chlorine monoxide (ClO) plays a key role in stratospheric ozone loss processes at midlatitudes. We present two balloonborne in situ measurements of ClO conducted in northern hemisphere midlatitudes during the period of the maximum of total inorganic ...
Engel, Andreas +6 more
core +4 more sources
SĄNAUDŲ UŽ VANDENS PASLAUGAS SUSIGRĄŽINIMO PRINCIPAS
Teisė, 2016 Šiame straipsnyje analizuojama viena iš vandens išteklių apsaugos priemonių – sąnaudų už vandens paslaugas susigrąžinimo principas. Tiriama šio principo kilmė, funkcijos ir turinys.
Airė Keturakienė
doaj +1 more source
A novel homozygous mutation of the AIRE gene in an APECED patient from Pakistan: case report and review of the literature [PDF]
, 2018 Autoimmune-poly-endocrinopathy-candidiasis-ectodermal-dystrophy syndrome (APECED) is a rare monogenic recessive disorder caused by mutations in the autoimmune regulator (AIRE) gene.
Bellacchio, Emanuele +5 more
core +2 more sources
Adaptación al aire enrarecido de las simas y cuevas. Estudio de laboratorio [PDF]
, 2008 Introducción y objetivos: En el macizo del Garraf (Barcelona) las simas tienen una atmósfera con disminución de oxígeno y aumento de CO2 respecto a la normalidad.
Bosch Cornet, Joan +5 more
core +1 more source