Recent advances on electrochemical biosensing strategies toward universal point‐of‐care systems

Y Dai, CC Liu - Angewandte Chemie, 2019 - Wiley Online Library
A number of very recently developed electrochemical biosensing strategies are promoting
electrochemical biosensing systems into practical point‐of‐care applications. The focus of …

Effects of chemical contaminants on genetic diversity in natural populations: implications for biomonitoring and ecotoxicology

JW Bickham, S Sandhu, PDN Hebert, L Chikhi… - … research/Reviews in …, 2000 - Elsevier
The conservation of genetic diversity has emerged as one of the central issues in
conservation biology. Although researchers in the areas of evolutionary biology, population …

The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer

R Fishel, MK Lescoe, MRS Rao, NG Copeland… - Cell, 1993 - cell.com
We have identified a human homolog of the bacterial MutS and S. cerevisiae MSH proteins,
called hMSH2. Expression of hMSH2 in E. coli causes a dominant mutator phenotype …

Melanocortin-4 receptor mutations are a frequent and heterogeneous cause of morbid obesity

C Vaisse, K Clement, E Durand… - The Journal of …, 2000 - Am Soc Clin Investig
By integrating an agonist satiety signal, provided by alpha–melanocyte-stimulating hormone
(α-MSH), and an antagonist signal, provided by agouti-related protein (AGRP), the …

Hereditary and acquired angioedema: problems and progress: proceedings of the third C1 esterase inhibitor deficiency workshop and beyond

A Agostoni, E Aygören-Pürsün, KE Binkley… - Journal of Allergy and …, 2004 - Elsevier
Hereditary angioedema (HAE), a rare but life-threatening condition, manifests as acute
attacks of facial, laryngeal, genital, or peripheral swelling or abdominal pain secondary to …

Database of p53 gene somatic mutations in human tumors and cell lines.

M Hollstein, K Rice, MS Greenblatt, T Soussi… - Nucleic acids …, 1994 - ncbi.nlm.nih.gov
A data base is described in which over 2,500 mutations in the p53 gene of human tumors
and tumor cell lines are compiled from a systematic search of reports published before 1 …

PolyPhred: automating the detection and genotyping of single nucleotide substitutions using fluorescence-based resequencing

DA Nickerson, VO Tobe, SL Taylor - Nucleic acids research, 1997 - academic.oup.com
Fluorescence-based sequencing is playing an increasingly important role in efforts to
identify DNA polymorphisms and mutations of biological and medical interest. The …

Characterization of mutations in patients with multiple endocrine neoplasia type 1

JHD Bassett, SA Forbes, AAJ Pannett, SE Lloyd… - The American Journal of …, 1998 - cell.com
Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder
characterized by tumors of the parathyroids, pancreatic islets, and anterior pituitary. The …

Clonal populations of hematopoietic cells with paroxysmal nocturnal hemoglobinuria genotype and phenotype are present in normal individuals

DJ Araten, K Nafa, K Pakdeesuwan… - Proceedings of the …, 1999 - National Acad Sciences
In paroxysmal nocturnal hemoglobinuria (PNH), acquired somatic mutations in the PIG-A
gene give rise to clonal populations of red blood cells unable to express proteins linked to …

Monogenic traits are not simple: lessons from phenylketonuria

CR Scriver, PJ Waters - Trends in genetics, 1999 - cell.com
The classification of genetic disease into chromosomal, monogenic and multifactorial
categories is an oversimplification. Phenylketonuria (PKU) is a classic …