autosomal dominant inheritance of congenital ☆telangiectasias to the skin and mucous membranes(lips, oropharynx, GI tract, urinary tract)
associated with AVMs
rupure of these telangiectasias may cause recurrent epistaxis, GI bleeding, and hematuria geneticsUWorld Apr 21, 2020, 5:50 AM HirotoShishido
Rett syndromede novo mutations in the X linked MECP-2 gene
normal development until age 6-18 months,follwed by a loss of motor and language skills and development of ☆stereotypic hand movements(hand stereotypies)
Gait abnormalities((★)lurching gait)
Head growth deceleration → ★microcephaly
Seizures
Breathing abnormalities
Sleep disturbance
Autistic features geneticspediatricsUWorld step2CK Apr 16, 2020, 1:50 AM HirotoShishido
series of gene mutations, which cause adenoma to carcinoma sequenceAPC inactivation: normal colon→ hyperproliferative epithelium
Southwestern blotidentify and isolate proteins that bind DNA
DNA binding protein→ ☆c-Jun, c-Fos
(proto-oncogenes)
= leucine zipper motif
→☆transcription factor that contains 30 amino acld alpha helical segment that consists of repeated leucine residues at every 7 position geneticsUWorld SIM2UWorld Mar 26, 2020, 8:35 PM HirotoShishido
base sequence in promoter regionCAAT box (70-80 bases upstream from the transcription start site)
Hognegs(TATA) box (25 bases upstream)
promotor→ ☆initiate transcription by acting as binding sites for general transcription factors and RNA polymerase Ⅱ geneticsbiologyUWorld Mar 7, 2020, 5:27 AM HirotoShishido
early and late onset of Alzheimer's diseaseeary→ associated with Amyloid precursor protein(APP) (on chromosome 21)
☆presenilin-1,2
molecules that recognize the stop codon and halt translation(eukaryotic) releasing factor 1 (eRFs)
eRFs binds to the ribosome and stimulate release of the formed polypeptide chain and dissolution of ribosome-mRNA complex geneticsUWorld Feb 22, 2020, 7:10 AM HirotoShishido
cells in which telomere length is maintained by telomerasecells with high turnover rate
→☆hematopoietic stem cells, epithelial
cells, lymphocytes geneticsUWorld Feb 13, 2020, 9:20 PM HirotoShishido
