Category: Chromosome

Genomic coordinate (human 11:5,225,464 HBB). Cytoband (human 11p15.5 HBB). Here I present: “Sickle Cell Anemia”, Victor McKusick, Mendelian Inheritance in Man’, 1966. INTRODUCTION Sickle cell disease is a multisystem disease associated with episodes of acute illness and progressive organ damage. Hemoglobin polymerization, leading to erythrocyte rigidity and vasoocclusion, is central to the pathophysiology of the disease, … Continue reading “Sickle Cell Anemia”, Victor McKusick, Mendelian Inheritance in Man, 1966.

Genomic coordinate (human 11:66,682,497 SPTBN2). Cytoband  (human 11q13.2 SPTBN2). Here I  🎁 present: “SPTBN2 in SCA5 &SPTBN2 SCAR14“, Victor McKusick, Mendelian Inheritance in Man’, 1966. (SPTBN2)   INTRODUCTION. A single gene (SPTBN2) leads to two distinct neurological disorders that converge on the same clinical outcome. 🧬 The Genetic Foundation Gene: SPTBN2 (encodes  -spectrin protein). Location: Cytoband … Continue reading “SPTBN2 in SCA5 & SCAR14”, Victor McKusick, Mendelian Inheritance in Man, 1966. (SPTBN2)

Genomic coordinate (human 11:68,903,891 IGHMBP2). Cytoband (human 11q13.3 IGHMBP2). Here I 🎁 present: “SPINAL  MUSCULAR  ATROPHY (Respiratory  Distress)”, Victor McKusick, Mendelian Inheritance in Man’, 1966. (IGHMBP2) Immunoglobulin mu-binding protein-2 (IGHMBP2) is a multifunctional enzyme that primarily functions as an ATP-dependent helicase. It unwinds DNA and RNA duplexes in a 5prime to 3prime direction. This protein is crucial … Continue reading “SPINAL MUSCULAR ATROPHY (Respiratory Distress)”, Victor McKusick, Mendelian Inheritance in Man, 1966. (IGHMBP2)

Genomic coordinate (human 11:71,427,287 DHCR7). Cytoband (human 11q13.4 DHCR7 ). Here I 🎁 present: “Smith-Lemli-Opitz Syndrome”, Victor McKusick, Mendelian Inheritance in Man’, 1966. Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive multiple congenital anomalies/mental retardation (MCA/MR) syndrome. Although historically a clinical distinction was often made between a classic ‘type I’ disorder and a more severe ‘type II’ disorder, in … Continue reading “Smith-Lemli-Opitz Syndrome”, Victor McKusick, Mendelian Inheritance in Man, 1966.

­Genomic coordinate (human 11:67,713,954 AIP). Cytoband (human 11q13.2 AIP). Here I 🎁 present: “AIP in Somatotropinoma & Hepatitis-B X-protein-2“, Victor McKusick, Mendelian Inheritance in Man’, 1966. idc10=E22.0 INTRODUCTION. The Aryl Hydrocarbon Receptor Interacting Protein (AIP) acts as a critical molecular bridge linking pituitary tumor development (somatotropinomas) and viral physiology, as it was originally discovered and … Continue reading “AIP in Somatotropinoma & Hepatitis-B X-protein-2”, Victor McKusick, Mendelian Inheritance in Man, 1966. idc10=E22.0