Tag: # Victor McKusick

Genomic coordinate (human 11:113,409,605 DRD2) & (human 11:637,269 DRD4). Cytoband (human 11q23.2 DRD2) & (human 11p15.5 DRD4). Here I 🎁 present: “Dopamine Receptors: DRD2 & DRD4″, Victor McKusick, Mendelian Inheritance in Man’, 1966. DRD2 and DRD4 are genes encoding D2-like dopamine receptors, which act as inhibitory receptors regulating neurotransmission in the brain’s reward system. Both genes … Continue reading “Dopamine Receptors: DRD2 & DRD4”, Victor McKusick, Mendelian Inheritance in Man, 1966.

Here I 🎁 present: “Insulin-Gene Pleiotropic Disorders”, Victor McKusick, Mendelian Inheritance in Man’, 1966. (INS) INSULIN’ PATHWAY PLEIOTROPY 1. Core Gene INS Location: Chromosome 11p15.5 The INS gene encodes insulin’, the central hormone regulating glucose uptake, lipid metabolism, and energy homeostasis. Mutations in INS primarily affect beta-cell function and insulin’ production. Major INS-related disorders Permanent … Continue reading “Insulin-Gene Pleiotropic Disorders”, Victor McKusick, Mendelian Inheritance in Man, 1966. (INS)

Here I present: “Centrocytic Lymphoma: Cyclin-D1”, Victor McKusick, Mendelian Inheritance in Man’, 1966. (CCND1) icd10=C83.1 Centrocytic lymphoma is a subtype of B-cell non-Hodgkin lymphoma, often classified within the Kiel classification as a malignancy of centrocytes (cleaved follicular center cells). It typically affects older adults, presenting with widespread lymphadenopathy, marrow involvement, and often massive splenomegaly, frequently … Continue reading “Centrocytic Lymphoma: Cyclin-D1″, Victor McKusick, Mendelian Inheritance in Man, 1966. (CCND1) icd10=C83.1

  Genomic coordinate (human 11:31,789,026 PAX6) & (mouse  2:105,499,245 Pax6). Cytoband (human 11p13 PAX6) & (mouse 2qE2 Pax6). Here I  🎁 present: “Congenital Cataracts”, Victor McKusick, Mendelian Inheritance in Man’, 1966. (PAX6) icd10=Q12.0 PAX6 gene mutations are a primary cause of hereditary ocular developmental defects, ranging from isolated congenital cataracts to severe anterior segment dysgenesis, most notably … Continue reading “Congenital Cataracts”, Victor McKusick, Mendelian Inheritance in Man, 1966. (PAX6) icd10=Q12.0

Genomic coordinate (human 11:57,597,685 SERPING1) & (mouse 2:84,595,704 Serping1). Cytoband (human 11q12.1 SERPING1) & (mouse 2qD Serping1). Here I present: “Complement Component Inhibitor (Angioedema) ”, Victor McKusick, Mendelian Inheritance in Man’, 1966.  (SERPING1) icd10=D84.1 Complement Component Inhibitor  is a vital protein that prevents the overactivation of the body’s complement and kinin systems. When this inhibitor is deficient or … Continue reading “Complement Component Inhibitor (Angioedema)”, Victor McKusick, Mendelian Inheritance in Man, 1966. (SERPING1) icd10=D84.1