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 …

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 …

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 …

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 …

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 …

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 …

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 …

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 …

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 …