Category: Chromosome

  Genomic coordinate (human 11:62,611,722 ROM1). Genomic coordinate (human 6:42,696,448 PRPH2). Cytoband (human 11q12.3 ROM1). Cytoband (human 6p21.1 PRPH2). Here I 🎁 present: “Digenic Retinitis Pigmentosa”, Victor McKusick, Mendelian Inheritance in Man’, 1966. idc10=H35.52 INTRODUCTION. Mechanistically, PRPH2 and ROM1 are homologous photoreceptor tetraspanins localized to the outer-segment disk rim, where they form homo- and heteromeric … Continue reading “Digenic Retinitis Pigmentosa”, Victor McKusick, Mendelian Inheritance in Man, 1966. idc10=H35.52

Genomic coordinate (human 11:36,546,140 RAG1). Genomic coordinate (human 11:36,616,107 RAG2). Cytoband (human 11p12 RAG1 & RAG2). Here I 🎁 present: “RAG-1/2 Recombinase Pleiotropic Disorders”, Victor McKusick, Mendelian Inheritance in Man’, 1966. idc10=D76.1 INTRODUCTION. Recombination-Activating Gene 1-&-2 (RAG-1/2) recombinase pleiotropic disorders represent a remarkably diverse spectrum of Inborn Errors of Immunity (IEI). While the RAG-1/2 enzyme complex is … Continue reading “RAG-1/2 Recombinase Pleiotropic Disorders”, Victor McKusick, Mendelian Inheritance in Man, 1966. idc10=D76.1

  Genomic coordinate (human 2:222,199,887 PAX3). Cytoband (human 2q36.1 PAX3). Here I present: “PAX3 Transcription-factor Pleiotropic Disorders”, Victor McKusick, Mendelian Inheritance in Man’, 1966. INTRODUCTION. PAX3 transcription-factor pleiotropic disorders represent a group of clinically diverse conditions caused by mutations or rearrangements in the PAX3 gene, which code for a crucial embryonic protein regulating multiple developmental pathways. … Continue reading “PAX3 Transcription-factor Pleiotropic Disorders”, Victor McKusick, Mendelian Inheritance in Man, 1966.

Here I 🎁 present: “211-Cell Types”, Victor McKusick, Mendelian Inheritance in Man’, 1966. PART FOUR. Below is the completion of the 211-Cell Types list. The final eight (8) groups are: Keratin, Sense, Matrix, Transduce,  Epithelial, Immune, Exocrine, Hormone.     Continue reading “211-Cell Types”, Victor McKusick, Mendelian Inheritance in Man, 1966. PART FOUR

Here I 🎁 present: “211-Cell Types”, Victor McKusick, Mendelian Inheritance in Man’, 1966. PART THREE. Below are seven (7) of the twenty (20) cell-types group classifications. The seven cell groups are: Wet, CNS, Ciliated, Metabolic,  Barrier, Urogenital, Contractile. Continue reading “211-Cell Types”, Victor McKusick, Mendelian Inheritance in Man, 1966. PART THREE.