Bölüm "İstanbul Medipol Üniversitesi, Uluslararası Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Tıbbi Genetik Ana Bilim Dalı" WoS İndeksli Yayınlar Koleksiyonu için listeleme
Toplam kayıt 9, listelenen: 1-9
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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 ... -
Development of the most comprehensive genetic test based on next generation sequencing for diagnosis of congenital hypothyroidism
(Nature Publishing Group, 2018)... -
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 ... -
Exome sequencing in a large family with Tourette Syndrome/Chronic Tic Disorder
(Nature Publishing Group, 2018)... -
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 ... -
A homozygous TPO gene duplication (c. 1184_1187dup4) causes congenital hypothyroidism in three siblings born to a consanguineous family
(Georg Thieme Verlag, 2015)Congenital hypothyroidism (CH) is the most common neonatal endocrine disease, and germ-line mutations in the TPO gene cause the inherited form of the disease. Our aim in this study was to determine the genetic basis of ... -
The investigation of genetic etiology in familial cases with congenital hypothyroidism
(Karger, 2019)Background: Congenital hypothyroidism(CH) is the most common neonatal endocrinological disorder in the world. Although most of the CH is sporadic, some genetic defects are responsible from the etiology. The aim of this ... -
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 ...