DYNC1H1
- Known as:
- DYNC1H1
- Catalog number:
- Y214415
- Product Quantity:
- 200ul
- Category:
- -
- Supplier:
- ABM
- Gene target:
- DYNC1H1
Related genes to: DYNC1H1
- Gene:
- DYNC1H1 NIH gene
- Name:
- dynein cytoplasmic 1 heavy chain 1
- Previous symbol:
- DNECL, DNCL, DNCH1
- Synonyms:
- Dnchc1, HL-3, p22, DHC1, CMT2O
- Chromosome:
- 14q32.31
- Locus Type:
- gene with protein product
- Date approved:
- 1995-11-15
- Date modifiied:
- 2016-03-02
Related products to: DYNC1H1
anti-DYNC1H1anti-DYNC1H1anti-DYNC1H1anti-DYNC1H1 type: Primary antibodies host: Mouseanti-DYNC1H1 type: Primary antibodies host: RabbitAnti-Mouse DYNC1H1 (KIAA0325), Rabbit PolyclonalBovine Cytoplasmic dynein 1 heavy chain 1(DYNC1H1) ELISA kitCanine Cytoplasmic dynein 1 heavy chain 1(DYNC1H1) ELISA kitCanine Cytoplasmic dynein 1 heavy chain 1(DYNC1H1) ELISA kitCytoplasmic dynein 1 heavy chain 1,Cytoplasmic dynein heavy chain 1,Dhc1,Dnch1,Dnchc1,Dnec1,Dyhc,Dync1h1,Dynein heavy chain, cytosolic,MAP 1C,Map1c,Rat,Rattus norvegicusCytoplasmic dynein 1 heavy chain 1,Cytoplasmic dynein heavy chain 1,Dhc1,Dnch1,Dnchc1,Dyhc,Dync1h1,Dynein heavy chain, cytosolic,Mouse,Mus musculusCytoplasmic dynein 1 heavy chain 1,Cytoplasmic dynein heavy chain 1,DHC1,DNCH1,DNCL,DNECL,DYHC,DYNC1H1,Dynein heavy chain, cytosolic,Homo sapiens,Human,KIAA0325DYDC2 Gene DPY30 domain containing 2DYNC1H1 antibody Host rabbitDYNC1H1 Antibody Related articles to: DYNC1H1
- - Source: PubMed
Publication date: 2026/04/27
Vega GiadaCamussi DilettaAstrea GujaBartolini Emanuele - Although mutations in many genes cause familial amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), most cases are sporadic (sALS and sFTD) with unclear etiology. Here we tested whether somatic mutations contribute to sALS and sFTD by deep targeted sequencing of 88 neurodegeneration-related genes in postmortem brain and spinal cord samples from 399 sporadic cases and 144 controls. Predicted deleterious somatic variants in ALS/FTD genes were observed in 2.1% of sporadic cases lacking deleterious germline variants. These variants occurred at very low allele fractions (typically <2%) and were often focal and enriched in disease-affected regions. Analysis of bulk RNA-sequencing data from an additional cohort identified deleterious somatic variants in DYNC1H1 and LMNA, genes associated with pediatric motor neuron degeneration. Targeted long-read sequencing further identified one sFTD case with de novo somatic C9orf72 repeat expansions. Together, these findings suggest that rare, focal somatic variants can contribute to sALS and sFTD and drive widespread neurodegeneration. - Source: PubMed
Publication date: 2026/04/15
Zhou ZinanKim JunhoHuang August YueNolan MatthewPark JunseokDoan RyanShin TaehwanMiller Michael BBae MingyunZhao BoxunKim JinhyeongChhouk BrianMorillo KatherineYeh Rebecca CKenny ConnorNeil Jennifer ELee Chao-ZongOhkubo TakuyaRavits JohnAnsorge OlafOstrow Lyle WLagier-Tourenne ClotildeLee Eunjung AliceWalsh Christopher A - Impaired cytoplasmic dynein function has been implicated in amyotrophic lateral sclerosis (ALS) pathogenesis, yet the contributions of spinal interneurons to disease phenotypes remain unclear. We tested the hypothesis that hypomorphic dynein function in cholinergic neurons disrupts the development, survival, or positioning of inhibitory interneuron populations in the lumbar spinal cord. Using ChAT-Cre recombination, we generated four mouse genotypes with graded reductions in dynein activity in ChAT+ cells: Dync1h1+/+ (wildtype), Dync1h1-/+ (hemizygous wildtype), Dync1h1+/Loa (heterozygous Loa mutation), and Dync1h1-/Loa (hemizygous Loa). At 52 weeks of age, lumbar spinal cords (L3-L6) were harvested, cryosectioned, and immunostained for ChAT, GAD-67, Parvalbumin, and Calbindin. Cell counts were performed on confocal images from eight sections per mouse (N = 3 male mice/genotype), and radial distances from the central canal were normalised to gray matter width. Angular distributions were analysed via circular statistics. There were no significant genotype-dependent differences in the numbers of ChAT+, GAD-67+, Parvalbumin+, or Calbindin+ cells, nor in ChAT+ subpopulations (motor neurons versus interneurons) or double-positive interneuron subsets (e.g., ChAT+-GAD-67+, Parvalbumin+-GAD-67+, Parvalbumin+-Calbindin+). Radial positioning relative to the central canal was similarly preserved across all markers and genotypes. Circular-median tests revealed statistically significant shifts in mean angle for ChAT+, GAD-67+, and certain double-positive cells, but these amounted to only 5-10° displacements, translating to lateral shifts of ~10-20 µm, well within single laminar bands, and are unlikely to impact circuit connectivity. Despite substantial motor deficits and hallmark TDP-43 pathology previously seen in these models, impaired dynein function does not precipitate interneuron loss or gross migratory defects in the lumbar spinal cord. Instead, our findings suggest that the primary contributions of dynein to ALS-like phenotypes likely arise from functional disruptions in axonal transport, synaptic maintenance, and neuronal physiology rather than from structural alterations or loss of interneuron populations. - Source: PubMed
Publication date: 2026/04/02
Christoforidou EleniRowe Jordan SSimoes Fabio ACassel RaphaelleDupuis LucLeigh Peter NigelHafezparast Majid - : Factors modulating phenotypic variability in Rett syndrome (RTT, OMIM 312750) include X chromosome inactivation (XCI), type of variant, and/or disease modifiers. Emerging evidence also points to multi-locus genetic variants. Understanding the phenotypic variability associated with multi-locus genetic diagnoses in individuals with RTT and -related disorders would be important not only for accurate diagnosis, risk stratification and clinical management but also to explain symptoms that might not be typically associated with RTT. : We present a case series of five individuals with a diagnosis of RTT or an -related disorder with co-occurring genetic findings, including pathogenic variants, variants of unknown significance and chromosome duplications. Clinical features such as neurodevelopmental history and comorbid medical conditions were assessed alongside the genetic findings. : A review of 200 cases with RTT identified five cases (all females aged 7-27 years) with a co-occurring genetic finding. Each case harboured at least one additional genetic variant that included a beta thalassaemia trait, () missense variant, maternally inherited 22q12.3 to q13.1 duplication, 7p14.3 and () variants of uncertain significance and a pathogenic () variant. A rare triple genetic finding was illustrated in a single case, combining , , and variants. This case series supports the premise that RTT and -related disorders exist in a more complex neurogenetic spectrum than previously defined. It also emphasises the complexity within -related disorders. They are not static, and in the context of severe treatment resistant epilepsy, disorders can evolve over time, necessitating diagnostic reclassification. Although the co-occurrence of multiple genetic disorders in RTT and -related disorders is rare, these cases underscore the importance of considering cumulative genetic burden when evaluating individuals with atypical features or evolving neurodevelopmental phenotypes. - Source: PubMed
Publication date: 2026/02/27
Singh JatinderChishti SamiyaSantosh Paramala - Lissencephaly (LIS) is a spectrum of cortical malformations including agyria, pachygyria and subcortical band heterotopia, which arises from aberrant neuronal migration and is associated with severe neurodevelopmental impairments. Despite advancements in prenatal imaging, diagnosing LIS remains challenging. Genetic factors play a crucial role in LIS, involving multiple genes and signalling pathways, yet research on prenatal diagnosis and the genetic basis is still limited. This study aimed to assess the diagnostic yield of whole exome sequencing (WES) in LIS and to examine genotype-phenotype correlations, addressing the challenge of 'phenotype lag' in prenatal LIS diagnosis. This study included 20 fetuses with LIS suggested by prenatal imaging and 20 children with LIS diagnosed after birth; all cases were diagnosed by magnetic resonance imaging and underwent genetic testing. In addition, a literature review was conducted and 80 studies were included, of which 1 was used to compare detection efficacy and 79 studies totalling 210 cases were used to assess genotype-phenotype correlation. In the prenatal cohort, 85.0% (17/20) of cases exhibited concurrent anomalies, predominantly ventriculomegaly (50.0%) and microcephaly (25.0%). In the postnatal cohort, the most common phenotypes were epilepsy (80.0%, 16/20) and global developmental delay (65.0%, 13/20), with half of the cases (10/20) showing no abnormalities in the prenatal period. The diagnostic yields were 55.0% (11/20) and 65.0% (13/20), respectively, with point mutations or 17p13.3 microdeletions being the predominant genetic variant in both cohorts, accounting for 31.3% (prenatal) and 25.5% (postnatal) of cases, respectively. and were reported to be associated with LIS for the first time in this study. Literature synthesis revealed an overall diagnostic yield of 79.04%, dominated by (26.3%), (11.9%), and (10.2%). By reviewing the prenatal images, up to 48.05% (74/154) of the cases had no specific findings in the prenatal period, and the most common presentations were ventriculomegaly/hydrocephalus (52.63%) and head circumference anomalies (29.82%). This study highlights the significant genetic heterogeneity, phenotypic complexity and diagnostic challenges of LIS by integrating data from our cohort and the published literature. We developed a comprehensive genetic aetiology classification framework for LIS and identified novel associations with non-canonical genes such as and . With a high molecular diagnostic yield of 79.04%, we recommend WES as the first-line genetic test. Furthermore, the establishment of an integrated prenatal imaging-molecular diagnostic system, along with a postnatal multidisciplinary model, is crucial for improving prognosis assessment, clinical decision-making and genetic counselling. - Source: PubMed
Publication date: 2026/03/06
Huang RuibinFu FangZhang NaZhou HangMei ShanshanHan JinDeng QiongLiu HongshengZhang YonglingYu QiuxiaPan MinLi FuchengLu JianqinMa ChunlingGuo FeiChen HuanyiLiu LiyuanZhao XinyiTan XinyueLi DongzhiLi RuLiao Can