Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss
IN Bespalova, G Van Camp, S JH Bom… - Human molecular …, 2001 - academic.oup.com
Non-syndromic low frequency sensorineural hearing loss (LFSNHL) affecting only 2000 Hz
and below is an unusual type of hearing loss that worsens over time without progressing to …
and below is an unusual type of hearing loss that worsens over time without progressing to …
Cutting edge: DGYW/WRCH is a better predictor of mutability at G: C bases in Ig hypermutation than the widely accepted RGYW/WRCY motif and probably reflects a …
IB Rogozin, M Diaz - The Journal of Immunology, 2004 - journals.aai.org
A feature of Ig hypermutation is the presence of hypermutable DNA sequences that are
preferentially found in the V regions of Ig genes. Among these, RGYW/WRCY is the most …
preferentially found in the V regions of Ig genes. Among these, RGYW/WRCY is the most …
The curious chemical biology of cytosine: deamination, methylation, and oxidation as modulators of genomic potential
CS Nabel, SA Manning, RM Kohli - ACS chemical biology, 2012 - ACS Publications
A multitude of functions have evolved around cytosine within DNA, endowing the base with
physiological significance beyond simple information storage. This versatility arises from …
physiological significance beyond simple information storage. This versatility arises from …
Keratin 9 gene mutations in epidermolytic palmoplantar keratoderma (EPPK)
A Reis, HC Hennies, L Langbein, M Digweed… - Nature …, 1994 - nature.com
We have isolated the gene for human type I keratin 9 (KRT9) and localised it to chromosome
17q21. Patients with epidermolytic palmoplantar keratoderma (EPPK), an autosomal …
17q21. Patients with epidermolytic palmoplantar keratoderma (EPPK), an autosomal …
Biological basis of germline mutation: comparisons of spontaneous germline mutation rates among drosophila, mouse, and human
JB Drost, WR Lee - Environmental and molecular mutagenesis, 1995 - Wiley Online Library
Spontaneous mutation rates per generation are similar among the three species considered
here—Drosophila, mouse, and human—and are not related to time, as is often assumed …
here—Drosophila, mouse, and human—and are not related to time, as is often assumed …
Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease.
CM Eng, LA Resnick-Silverman… - American journal of …, 1993 - ncbi.nlm.nih.gov
Fabry disease, an X-linked inborn error of glycosphingolipid catabolism, results from
mutations in the alpha-galactosidase A (alpha-Gal A) gene at Xq22. 1. To determine the …
mutations in the alpha-galactosidase A (alpha-Gal A) gene at Xq22. 1. To determine the …
[HTML][HTML] Neighboring-nucleotide effects on the rates of germ-line single-base-pair substitution in human genes
M Krawczak, EV Ball, DN Cooper - The American Journal of Human …, 1998 - cell.com
The spectrum of single-base-pair substitutions logged in The Human Gene Mutation
Database (HGMD), comprising 7,271 different lesions in the coding regions of 547 different …
Database (HGMD), comprising 7,271 different lesions in the coding regions of 547 different …
[HTML][HTML] Association of CBP/p300 acetylase and thymine DNA glycosylase links DNA repair and transcription
DNA repair in chromatin is subject to topological constraints, suggesting a requirement for
chromatin modification and remodeling activities. Thymine DNA glycosylase (TDG) initiates …
chromatin modification and remodeling activities. Thymine DNA glycosylase (TDG) initiates …
Mutations in the DNA ligase I gene of an individual with immunodeficiencies and cellular hypersensitivity to DNA-damaging agents
DE Barnes, AE Tomkinson, AR Lehmann… - Cell, 1992 - cell.com
Two missense mutations occurring in different alleles of the DNA llgase I gene, encoding the
major DNA ligase in proliferating mammalian cells, were detected in a human flbroblast …
major DNA ligase in proliferating mammalian cells, were detected in a human flbroblast …
[图书][B] Hemostasis and thrombosis: basic principles and clinical practice
VJ Marder, WC Aird, JS Bennett, S Schulman… - 2012 - books.google.com
Since publication of the First Edition in 1982, Hemostasis and Thrombosis has established
itself as the pre-eminent book in the field of coagulation disorders. No other book is as …
itself as the pre-eminent book in the field of coagulation disorders. No other book is as …