Tubb2b siRNA_Lentivectors
- Known as:
- Tubb2b siRNA_Lentivectors
- Catalog number:
- i062666b
- Product Quantity:
- 500ng
- Category:
- -
- Supplier:
- ABM
- Gene target:
- Tubb2b siRNA_Lentivectors
Related genes to: Tubb2b siRNA_Lentivectors
- Gene:
- TUBB2B NIH gene
- Name:
- tubulin beta 2B class IIb
- Previous symbol:
- -
- Synonyms:
- MGC8685, DKFZp566F223, bA506K6.1
- Chromosome:
- 6p25.2
- Locus Type:
- gene with protein product
- Date approved:
- 2005-11-03
- Date modifiied:
- 2015-12-17
Related products to: Tubb2b siRNA_Lentivectors
Related articles to: Tubb2b siRNA_Lentivectors
- Tubulinopathies encompass a clinically and neuroradiologically diverse group of neurodevelopmental disorders caused by mutations in genes encoding tubulins and microtubule-associated proteins. This study aims to delineate the extensive phenotypic and genotypic spectrum within a pediatric cohort. - Source: PubMed
Publication date: 2026/07/20
Altıntaş MertYıldırım MiraçKırık SerkanKaynak Şahap SedaLeblebici Can BerkCırdı GökçeTekin Orgun LemanBektaş ÖmerÇobanoğulları Direk MeltemDeğerliyurt AydanTeber Serap - TUBB2B encodes a β-tubulin isotype essential for neuronal proliferation, migration, and organization during brain development. Pathogenic heterozygous variants in TUBB2B are associated with neurodevelopmental disorders including polymicrogyria and corpus callosum abnormalities. However, the phenotypic spectrum remains heterogeneous, likely reflecting variant-specific effects on microtubule formation and stability. Homozygous TUBB2B variants are exceedingly rare, with one family reported to date. We describe five individuals in four families with rare TUBB2B variants. Four variants are described, including a previously reported de novo missense variant NM_178012.5:c.292G>A p.(Gly98Arg), with potential phenotypic expansion including panhypopituitarism, a previously reported de novo missense variant, NM_178012.5:c.605T>C p.(Ile202Thr) showing interindividual heterogeneity, a de novo missense variant, NM_178012.5:c.43C>A p.(Gln15Lys) at a polyamination-site critical for microtubule stability, and a homozygous missense variant within a region of absence of heterozygosity in two siblings from consanguineous parents NM_178012.5:c.145G>A p.(Val49Ile). Both individuals also carry a pathogenic homozygous truncating ALKBH8 variant NM_138775.3:c.1675del p.(Arg559Alafs*56), representing a potential dual molecular diagnosis driving clinical features reflective of contributions from both genes. These reports expand the clinical spectrum of TUBB2B-related tubulinopathies, illustrate phenotypic heterogeneity, and provide insights into disease mechanisms including effects at polyamination-sites and rare recessive inheritance, underscoring the need for nuanced genotype-phenotype interpretation in diagnostic and counseling contexts. - Source: PubMed
Publication date: 2026/07/17
Beheshti Shaghayegh TJolly AngadSaad Ahmed KDu HaoweiWesterfield Lauren EMunderloh ChloeKalra DivyaWu YifanChen YiGingras Marie-ClaudeJhangiani Shalini NYilmaz SarenurZaki Maha SCalame Daniel GPehlivan DavutGibbs Richard ALewis Richard ALupski James RPosey Jennifer E - The mechanisms underlying the occurrence and development of breast cancer (BC) is complex. Vinorelbine-related genes (Vino-RGs) may play important roles in the treatment of BC, but their specific mechanisms remain unclear. We aimed to explore vinorelbine-related prognostic genes and their mechanisms for BC treatment. - Source: PubMed
Publication date: 2026/06/26
Wu YiYang GuimeiLi YixianRuan YunjingYang Qianmei - Dandy-Walker malformation (DWM) is a condition characterized by a cyst in the posterior cranial fossa contiguous with the fourth ventricle, combined with complete or partial agenesis of the cerebellar vermis; and elevation of the cerebellar tentorium, torcular Herophili, and transverse sinuses. DWM has been linked to specific genetic variants, with pathogenic or likely pathogenic variants reported in FOXC1, ZIC1, and ZIC4. Variants in the TUBB2B and TUBB3 genes are associated with abnormalities in tubulin, leading to cerebellar hypoplasia. In our study, three patients diagnosed with DWM underwent whole-genome analysis using next-generation sequencing, and two were found to have heterozygous variants in the tubulinopathy-associated genes TUBB2B and TUBB3, respectively. These findings indicate that some cases previously diagnosed as DWM may fall under the spectrum of tubulinopathies associated with cerebellar hypoplasia. - Source: PubMed
Publication date: 2026/06/17
Ueno KatsuyaHigasa KoichiroHayashi MikioIsozaki HarunaMiyata MayukoNaito NobuakiLi YiTakeda JunichiNonaka Masahiro - To determine the diagnostic yield of comprehensive genetic testing in patients with neuroimaging findings suggestive of lissencephaly spectrum disorders and to characterize novel pathogenic variants contributing to the genetic architecture of the spectrum. - Source: PubMed
Meašić Ana-MariaVulin KatarinaBobinec AdrianaMorožin Pohovski LeonaSansović IvonaMikloš MoranaKero MijanaTripalo Batoš AnaOdak LjubicaBarišić Ingeborg