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The protein encoded by THAP1 contains a THAP domain, a conserved DNA-binding domain. Zusätzlich bieten wir Ihnen THAP1 Proteine (11) und viele weitere Produktgruppen zu diesem Protein an.
Showing 10 out of 41 products:
Mammalian Monoclonal THAP1 Primary Antibody für ISt, IHC - ABIN1305006
Ortiz-Virumbrales, Ruiz, Hone, Dolios, Wang, Morant, Kottwitz, Ozelius, Gandy, Ehrlich: Dystonia type 6 gene product Thap1: identification of a 50 kDa DNA-binding species in neuronal nuclear fractions. in Acta neuropathologica communications 2015
This study demonstrated that whole-exome sequencing show reveled THAP1 mutation with early-onset generalized dystonia.
Genetic screening targeted at currently known disease-causing mutations in TOR1A (zeige TOR1A Antikörper), THAP1, and TUBB4 (zeige TUBB3 Antikörper) appears to have low diagnostic yield in sporadic spasmodic dysphonia. In our cohort, only 2 patients tested positive for novel/rare variants in THAP1.
A deleterious THAP1 mutation was identified in patients with idiopathic isolated dystonia.
there might not be an association between TOR1A (zeige TOR1A Antikörper) or THAP1 and patients with adult-onset primary focal dystonia
findings strongly suggest the role of other genetic factors or environmental triggers in the pathogenesis of dystonia related to mutations in THAP1 gene.
The aim of this study was to assess the presence of DYT6 mutations in Polish patients with isolated dystonia. It shows known and novel substitutions.
THAP1 variants are an important cause of dystonia among individuals with an early-onset disease and a positive family history.
This study demonistrated that Combined occurrence of a novel TOR1A (zeige TOR1A Antikörper) and a THAP1 mutation in primary dystonia.
this study identified a feedback-loop in the regulation of THAP1 expression and demonstrated that mutant THAP1 leads to higher THAP1 expression levels.
Primary dystonia in the Amish-Mennonites is genetically diverse and includes not only the THAP1 indel founder mutation but also different mutations in THAP1 and GNAL as well as the TOR1A (zeige TOR1A Antikörper) GAG deletion.
These studies establish a role for THAP1 transcriptional regulation at the inception of myelination and implicate abnormal timing of myelination in the pathogenesis of childhood-onset dystonia.
The protein encoded by this gene contains a THAP domain, a conserved DNA-binding domain. This protein colocalizes with the apoptosis response protein PAWR/PAR-4 in promyelocytic leukemia (PML) nuclear bodies, and functions as a proapoptotic factor that links PAWR to PML nuclear bodies. Alternatively spliced transcript variants encoding distinct isoforms have been observed.
THAP domain-containing protein 1
, THAP domain containing, apoptosis associated protein 1
, THAP domain-containing protein 1 A
, THAP domain protein 1
, nuclear proapoptotic factor
, THAP domain-containing apoptosis-associated protein 1