TMEM16C Blocking Peptide
- Known as:
- TMEM16C Blocking Peptide
- Catalog number:
- 33r-10041
- Product Quantity:
- USD
- Category:
- -
- Supplier:
- Fitzgerald industries international
- Gene target:
- TMEM16C Blocking Peptide
Related genes to: TMEM16C Blocking Peptide
- Gene:
- ANO3 NIH gene
- Name:
- anoctamin 3
- Previous symbol:
- C11orf25, TMEM16C
- Synonyms:
- GENX-3947, DYT23
- Chromosome:
- 11p14.2
- Locus Type:
- gene with protein product
- Date approved:
- 2000-11-28
- Date modifiied:
- 2019-02-28
Related products to: TMEM16C Blocking Peptide
Related articles to: TMEM16C Blocking Peptide
- DYT-ANO3 is an autosomal dominant dystonia syndrome caused by pathogenic variants in the ANO3 gene, typically presenting as focal or segmental dystonia of the neck and upper limbs, often accompanied by tremor. However, the clinical spectrum has broadened to include a variety of movement phenotypes. Here, we report a large Indian family harbouring a novel ANO3 variant, demonstrating wide phenotypic heterogeneity. - Source: PubMed
Publication date: 2026/04/15
Ganguly JackyKeshav RohitChoudhury SupriyoChowdhury Sayoni RoyBishayee RahulDutta DebayanMukherjee SoumavaBasu PurbaSarmah Nilanju PranKumar Hrishikesh - A 21-year-old woman presented with a severe tremor and involuntary spasms in her hands. Her tremor started at the age of seven, and while it was initially mild and only in bilateral upper extremities, its severity increased over time. There is no consanguinity between her parents, and her early developmental milestones are consistent with her age. Her father had involuntary movements with similar semiology. The neurological examination revealed a mild intellectual disability, head titubation, postural and action tremors, and dystonia affecting the bilateral distal upper extremities. Brain magnetic resonance imaging and investigations for neurometabolic diseases were normal. Exome sequencing analysis revealed a heterozygous likely pathogenic variant of ANO3 gene ([NM_031418.4]:c.1943A>G p.[Asn648Ser]), and she was diagnosed with ANO3-related dystonia (DYT-ANO3). She was started on trihexyphenidyl, and at the follow-up, partial improvement in her involuntary movements was observed.DYT-ANO3 caused by pathogenic variants of ANO3 gene were first described in families affected by adult-onset tremulous craniocervical dystonia, and since then, the phenotypic spectrum has expanded significantly. The onset of clinical features may vary from the first months of life to adulthood, and cases may present with a wide range of clinical spectrum, from focal/segmental to generalized dystonia, and from isolated to tremulous or jerky dystonia. Cases with the same genotype may present with movement disorders of different characteristics, suggesting that there is no definitive genotype-phenotype correlation in DYT-ANO3 cases. Additionally, cases with nondystonic features, such as nondystonic tremor, myoclonus and/or neurodevelopmental delay have also been reported. - Source: PubMed
Publication date: 2025/12/24
Altıntaş MertYıldırım MiraçEker EceMutlu HaticeBektaş ÖmerTeber Serap - Preterm infants are at risk for bilirubin-induced brain injury. Phototherapy is effective for lowering serum bilirubin but has potential adverse effects. The independent effects of hyperbilirubinemia and phototherapy on the hippocampal gene expression profile were determined using a preterm-equivalent Gunn rat model. - Source: PubMed
Publication date: 2025/12/22
Satrom Katherine MLock Eric FLund Troy CTran Phu VRao Raghavendra B - Dystonia is one of the most common movement disorders, with variants in multiple genes identified as causative. However, an understanding of which developmental stages, brain regions, and cell types are most relevant is crucial for developing relevant disease models and therapeutics. One approach is to examine the timing and anatomical expression of genes in which variants are dystonia-causing, on the assumption that deleterious variants have a greater impact where higher levels of expression are observed. - Source: PubMed
Publication date: 2025/12/16
Cameron DarrenClifton Nicholas Ede la Fuente Daniel CabezasHolmans PeterBray Nicholas JPeall Kathryn J
- Source: PubMed