Bölüm "İstanbul Medipol Üniversitesi, Uluslararası Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Tıbbi Genetik Ana Bilim Dalı" Scopus İndeksli Yayınlar Koleksiyonu için listeleme
Toplam kayıt 5, listelenen: 1-5
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Association of Enteric Protist Blastocystis spp. and gut microbiota with hepatic encephalopathy
(Medical Univ Press, 2016)Background & Aims: Hepatic encephalopathy (HE) is a serious neuropsychiatric sequela emerging in the advanced stages of cirrhosis. The gut microbiota plays an important role in the development of HE. The aim of the study ... -
Digenic DUOX1 and DUOX2 mutations in cases with congenital hypothyroidism
(Oxford University Press Inc, 2017)Context: The DUOX2 enzyme generates hydrogen peroxide (H2O2), a crucial electron acceptor for the thyroid peroxidase-catalyzed iodination and coupling reactions mediating thyroid hormone biosynthesis. DUOX2 mutations result ... -
Homozygous loss-of-function mutations in SLC26A7 cause goitrous congenital hypothyroidism
(American Society for Clinical Investigation Inc, 2018)Defects in genes mediating thyroid hormone biosynthesis result in dyshormonogenic congenital hypothyroidism (CH). Here, we report homozygous truncating mutations in SLC26A7 in 6 unrelated families with goitrous CH and show ... -
Phosphodiesterase 10A deactivation induces long-term neurological recovery, peri-infarct remodeling and pyramidal tract plasticity after transient focal cerebral ischemia in mice
(Academic Press Inc., 2022)The phosphodiesterase (PDE) superfamily comprises enzymes responsible for the cAMP and cGMP degradation to AMP and GMP. PDEs are abundant in the brain, where they are involved in several neuronal functions. High PDE10A ... -
Phosphodiesterase 10A is a critical target for neuroprotection in a mouse model of ischemic stroke
(Springer, 2022)Phosphodiesterase 10A (PDE10A) hydrolyzes adenosine 3 ',5 '-cyclic monophosphate (cAMP) and guanosine 3 ',5 '-cyclic monophosphate (cGMP). It is highly expressed in the striatum. Recent evidence implied that PDE10A may be ...