2024年3月21日 · DYNC1H1-related disorders are primarily characterized by an axonal neuropathy with a wide phenotypic spectrum ranging from a neuromuscular-only phenotype (DYNC1H1-related neuromuscular disorder, or DYNC1H1-NMD) to phenotypes involving both the central nervous system and peripheral nervous system referred to …

2024年12月24日 · DYNC1H1 (Dynein Cytoplasmic 1 Heavy Chain 1) is a Protein Coding gene. Diseases associated with DYNC1H1 include Charcot-Marie-Tooth Disease, Axonal, Type 2O and Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant.

DYNC1H1-Associated Neurological Disorders, DAND, can cause a wide variety of symptoms, from debilitating and life threatening to mild physical challenges and ADHD. Every person with DAND is different, but we are here for everyone. How common are …

At least eight mutations in the DYNC1H1 gene have been found to cause a condition called spinal muscular atrophy with lower extremity predominance (SMA-LED). This condition is characterized by muscle weakness and wasting (atrophy) in the lower limbs that often begins in …

Cytoplasmic dynein 1 heavy chain 1 is a protein that in humans is encoded by the DYNC1H1 gene. [5][6][7] Dynein is a molecular motor protein that is responsible for the transport of numerous cellular cargoes to minus ends of microtubules, which are typically found in the center of a cell, or the cell body of neurons.

2020年8月12日 · We identified ten patients with nine novel mutations in the DYNC1H1 gene. These patients exhibit a broad spectrum of clinical findings, suggesting an overlapping disease manifestation with...

What is DYNC1H1? How do these disorders affect people? What treatment is available? What research is being done?

DYNC1H1 regulates NSCLC cell growth and metastasis by IFN-gamma-JAK-STAT signaling and is associated with an aberrant immune response. A High-Throughput Cellular Screening Assay for Small-Molecule Inhibitors and Activators of Cytoplasmic Dynein-1-Based Cargo Transport.

动力蛋白是一组微管激活的 ATP 酶，起分子马达的作用。 它们分为轴丝和细胞质动力蛋白两个亚组。 细胞质动力蛋白在细胞内运动中起作用，包括逆行轴突运输、蛋白质分选、细胞器运动和纺锤体动力学。 常规细胞质动力蛋白的分子由 2 条重链多肽和许多中间链和轻链组成。 该基因编码细胞质动力蛋白重链家族的成员。 [RefSeq 提供，2008 年 10 月] Dyneins are a group of microtubule-activated ATPases that function as molecular motors. They are divided into two …

DYNC1H1- related disorders are autosomal dominant disorders typically caused by a de novo pathogenic variant. Most individuals with <i>DYNC1H1</i>-NMD have the disorder as the result of a <i>de novo</i> pathogenic variant, although transmission of a <i>DYNC1H1</i> pathogenic variant fro</span> …