A5058798835- Drug Transport and Resistance Mechanisms
- Bladder and Urothelial Cancer Treatments
- Cancer Genomics and Diagnostics
- Epigenetics and DNA Methylation
- Cervical Cancer and HPV Research
- Cystic Fibrosis Research Advances
- BRCA gene mutations in cancer
- Carbon dioxide utilization in catalysis
- Cancer, Hypoxia, and Metabolism
- Radiopharmaceutical Chemistry and Applications
- HIV Research and Treatment
- Cholesterol and Lipid Metabolism
- Immune Cell Function and Interaction
- Eicosanoids and Hypertension Pharmacology
- Catalytic Processes in Materials Science
- Genomic variations and chromosomal abnormalities
- Retinal Diseases and Treatments
- Hedgehog Signaling Pathway Studies
- Genetic factors in colorectal cancer
- Molecular Biology Techniques and Applications
- Neonatal Respiratory Health Research
- Nutrition, Genetics, and Disease
- Cancer Immunotherapy and Biomarkers
- Genetic Associations and Epidemiology
- Genomics and Chromatin Dynamics
National Cancer Institute
2016-2025
Division of Cancer Epidemiology and Genetics
2016-2025
Massachusetts General Hospital
1987-2025
Mass General Brigham
2025
National Institutes of Health
2014-2024
Leidos (United States)
2021-2024
Leidos Biomedical Research Inc. (United States)
2021-2024
Australian Red Cross Lifeblood
2008-2023
University of the Sunshine Coast
2023
Queensland University of Technology
2023
An understanding of the basic defect in inherited disorder cystic fibrosis requires cloning gene and definition its protein product. In absence direct functional information, chromosomal map position is a guide for locating gene. Chromosome walking jumping complementary DNA hybridization were used to isolate sequences, encompassing more than 500,000 base pairs, from region on long arm human chromosome 7. Several transcribed sequences conserved segments identified this cloned region. One...
A gene discovered by positional cloning has been identified as the von Hippel-Lindau (VHL) disease tumor suppressor gene. restriction fragment encompassing showed rearrangements in 28 of 221 VHL kindreds. Eighteen these were due to deletions candidate gene, including three large nonoverlapping deletions. Intragenic mutations detected cell lines derived from patients and sporadic renal carcinomas. The is evolutionarily conserved encodes two widely expressed transcripts approximately 6 6.5...
The chemokine receptor 5 (CKR5) protein serves as a secondary on CD4 + T lymphocytes for certain strains of human immunodeficiency virus-type 1 (HIV-1). CKR5 structural gene was mapped to chromosome 3p21, and 32-base pair deletion allele ( CKR5Δ32 ) identified that is present at frequency ∼0.10 in the Caucasian population United States. An examination 1955 patients included among six well-characterized acquired syndrome (AIDS) cohort studies revealed 17 homozygotes occurred exclusively 612...
The nevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominant disorder characterized by multiple carcinomas (BCCs), pits of the palms and soles, jaw keratocysts, a variety other tumors, developmental abnormalities. NBCCS maps to chromosome 9q22.3. Familial sporadic BCCs display loss heterozygosity in this region, consistent with gene being tumor suppressor. A human sequence (PTC) strong homology Drosophila segment polarity gene, patched, was isolated from YAC cosmid contig...
Age-related macular degeneration (AMD) is the most frequent cause of irreversible blindness in elderly developed countries. Our previous studies implicated activation complement formation drusen, hallmark lesion AMD. Here, we show that factor H (HF1), major inhibitor alternative pathway, accumulates within drusen and synthesized by retinal pigmented epithelium. Because linkage analyses identified chromosome 1q25-32, which harbors gene ( HF1 / CFH ), as an AMD susceptibility locus, analyzed...
The transport of specific molecules across lipid membranes is an essential function all living organisms and a large number transporters have evolved to carry out this function. largest transporter gene family the ATP-binding cassette (ABC) superfamily. These proteins translocate wide variety substrates including sugars, amino acids, metal ions, peptides, proteins, hydrophobic compounds metabolites extra- intracellular membranes. ABC genes are for many processes in cell, mutations these...
Samuel Deutsch1,2, Christian Iseli3,4, Philipp Bucher4,5, Stylianos E. Antonarakis1,7, and Hamish S. Scott1,6 Division of Medical Genetics, University Geneva School, Geneva, Switzerland; 2Graduate Program in Molecular Cellular Biology, 3Ludwig Institute for Cancer Research, Epalinges, 4Swiss Bioinformatics Institute, 5Swiss Experimental Switzerland
We report the sequence and analysis of 814-megabase genome sea urchin Strongylocentrotus purpuratus , a model for developmental systems biology. The sequencing strategy combined whole-genome shotgun bacterial artificial chromosome (BAC) sequences. This use BAC clones, aided by pooling strategy, overcame difficulties associated with high heterozygosity genome. encodes about 23,300 genes, including many previously thought to be vertebrate innovations or known only outside deuterostomes....
The critical role of chemokine receptors (CCR5 and CXCR4) in human immunodeficiency virus–type 1 (HIV-1) infection pathogenesis prompted a search for polymorphisms other receptor genes that mediate HIV-1 disease progression. A mutation ( CCR2-64I ) within the first transmembrane region CCR2 gene is described occurred at an allele frequency 10 to 15 percent among Caucasians African Americans. Genetic association analysis five acquired syndrome (AIDS) cohorts (3003 patients) revealed although...
Age-related macular degeneration (AMD) is the leading cause of severe central visual impairment among elderly and associated both with environmental factors such as smoking genetic factors. Here, 167 unrelated AMD patients were screened for alterations in ABCR , a gene that encodes retinal rod photoreceptor protein defective Stargardt disease, common hereditary form dystrophy. Thirteen different AMD-associated alterations, deletions amino acid substitutions, found one allele 26 (16%)....
Stromal-derived factor (SDF-1) is the principal ligand for CXCR4, a coreceptor with CD4 T lymphocyte cell line-tropic human immunodeficiency virus-type 1 (HIV-1). A common polymorphism, SDF1-3'A, was identified in an evolutionarily conserved segment of 3' untranslated region SDF-1 structural gene transcript. In homozygous state, SDF1-3'A/3'A delays onset acquired syndrome (AIDS), according to genetic association analysis 2857 patients enrolled five AIDS cohort studies. The recessive...
Pulmonary surfactant forms a lipid-rich monolayer that coats the airways of lung and is essential for proper inflation function lung. Surfactant produced by alveolar type II cells, stored intracellularly in organelles known as lamellar bodies, secreted exocytosis. The gene ATP-binding cassette transporter A3 (ABCA3) expressed protein localized to suggesting it has an important role metabolism.We sequenced each coding exons ABCA3 blood DNA from 21 racially ethnically diverse infants with...