A5077598147- Neurogenetic and Muscular Disorders Research
- RNA modifications and cancer
- RNA Research and Splicing
- Regulation of Appetite and Obesity
- Biochemical Analysis and Sensing Techniques
- Nutrition, Genetics, and Disease
- Muscle Physiology and Disorders
- melanin and skin pigmentation
- RNA and protein synthesis mechanisms
- Genetic Associations and Epidemiology
- CRISPR and Genetic Engineering
- Retinal Development and Disorders
- Bone health and osteoporosis research
- Pancreatic function and diabetes
- Intellectual Property and Patents
- Adipose Tissue and Metabolism
- Innovation and Socioeconomic Development
- Bone Metabolism and Diseases
- Metabolism and Genetic Disorders
- Genetics and Physical Performance
- Parathyroid Disorders and Treatments
- Genomics and Rare Diseases
- Bone health and treatments
- Genetic Syndromes and Imprinting
- Congenital heart defects research
Rhythm (United states)
2018-2023
Jazz Pharmaceuticals (United States)
2018-2023
Research & Development Institute
2018
Ono Pharmaceutical (United States)
2018
Broad Institute
2006
Whitehead Institute for Biomedical Research
2003-2004
Sequenom (United States)
2003-2004
Wellesley College
2003
Genomics England
2002
Millennium Engineering and Integration (United States)
1996-2000
Inactivation of the melanocortin-4 receptor (MC4-R) by gene-targeting results in mice that develop maturity-onset obesity, hyperinsulinemia, and hyperglycemia. These phenotypes resemble common forms human which are late-onset frequently accompanied NIDDM. It is not clear whether sequence variation MC4-R gene contributes to obesity humans. Therefore, we examined polymorphism 190 individuals ascertained on status. Three allelic variants were identified, including two novel ones, Thr112Met...
Abstract Because mice deficient in klotho gene expression exhibit multiple aging phenotypes including osteopenia, we explored the possibility that may contribute to age-related bone loss humans by examining association between polymorphisms and density two genetically distinct racial populations: white Japanese. Screening of single-nucleotide (SNPs) human identified 11 polymorphisms, three them were common both populations. Associations SNPs with investigated populations 1187 women 215...
With an ever-increasing resource of validated single-nucleotide polymorphisms (SNPs), the limiting factors in genome-wide association analysis have become genotyping capacity and availability DNA. We provide a proof concept use pooled DNA as means efficiently screening SNPs prioritizing them for further study. This approach reduces final number that undergo full, sample-by-sample well quantity used overall. examined 15 cholesteryl ester transfer protein ( CETP ) gene, gene previously...
In Techview for September, Kleyn and Vesell discuss the field of pharmacogenomics, which uses large-scale genetic techniques to pursue drug development. Disease risk, resistance, slow clearance are all known be associated with particular genes. The authors review methods searching human genome that may reveal connections between variations effectiveness safety.
Increasing evidence points toward epigenetic variants as a risk factor for developing obesity. We analyzed DNA methylation of the
The mouse tubby phenotype is characterized by maturity-onset obesity accompanied retinal and cochlear degeneration. A positional cloning effort to find the gene responsible for this led identification of tub, a member novel family unknown function. splice defect mutation in 3' end tub gene, predicted disrupt C terminus Tub protein, has been implicated genesis phenotype. It not clear, however, whether mutant protein retains any biological activity, or perhaps some dominant function, nor it...
Obesity is a multifactorial disorder with complex phenotype. It significant risk factor for diabetes and hypertension. We assessed obesity-related traits in large cohort of twins performed genome-wide linkage scan positional candidate analysis to identify genes that play role regulating fat mass distribution women. Dizygous female twin pairs from 1094 pedigrees were studied (mean age 47.0±11.5 years (range 18–79 years)). Nonparametric multipoint analyses showed central 12q24 (141 cM) LOD 2.2...
The childhood-onset SMA locus has been mapped to chromosome 5q13, in a region bounded by the proximal locus, D5S6, and closely linked distal loci, DSS112 MAP1B. We now describe highly polymorphic, tightly microsatellite marker (D5S435) that is very likely closest locus. Multipoint linkage analysis firmly establishes following order of markers at 5q13: centromere-D5S76-D5S6-D5S435-MAP1B/D5S112-D5S39-telomere. data indicate resides an approximately 0.7-cM (range 0.1-2.1) between D5S435 This...
The childhood spinal muscular atrophies (SMAs) are the most common, serious neuromuscular disorders of second to Duchenne dystrophy. A single locus for these has been mapped by recombination events a region 0.7 centimorgan (range, 0.1-2.1 centimorgans) between loci D5S435 and MAP1B on chromosome 5q11.2-13.3. By using PCR amplification screen yeast artificial (YAC) DNA pools PCR-vectorette method amplify YAC ends, contig was constructed across disease gene region. Nine walk steps identified...
A polyclonal antiserum directed against the C-terminal domain of dystrophin was used to isolate a cDNA clone encoding an antigenically cross-reactive protein, microtubule-associated protein 1B (MAP-1B). Physical mapping human MAP-1B locus places its chromosomal location at 5q13, in proximity spinal muscular atrophy (SMA) locus. SMA is degenerative disorder primarily affecting motor neurons. Genetic linkage analysis families using dinucleotide repeat polymorphism just 3' gene has shown tight...
Abstract A genome-wide screen was performed on a large cohort of dizygous twin pairs to identify regions the genome that contain QTL for QUS bone. Suggestive linkage parameters 2q33–37 and 4q12–21 highlighted these as potentially important studies genes regulate Introduction: The genetics osteoporotic fracture is only partly explained by bone mineral density (BMD). Quantitative ultrasound (QUS) calcaneus can also be used independent clinical assessment risk. Two specific indices are derived...
Spinal muscular atrophy (SMA) is the second most common lethal, autosomal recessive disease in Caucasians, only to cystic fibrosis. In an effort identify causative gene SMA, we have used radiation hybrid (RH) mapping prepare a high resolution physical map of proximal region chromosome 5 (5q11-13) which contains SMA gene. The region, spans approximately 4 Mb, 19 loci including 9 polymorphic DNA markers, 8 monomorphic sequence tagged sites (STS) and two genes. Based upon RH closely flank locus...
This paper applies objective methods to explore the technological origins of widely acclaimed CRISPR breakthrough in domain genome engineering. Previously developed patent search techniques are first used recover a set patents that well-represent editing before CRISPR. Main paths then determined from citation network associated with this allowing identification three major knowledge trajectories. The most significant these trajectories for involves core less involving cloning and...
Distal spinal muscular atrophy is a rare lower motor neuron disorder that may be difficult to distinguish clinically from type II Charcot-Marie-Tooth disease. We report on clinical and pathologic findings in 13 members of four-generation extended family with autosomal dominant distal atrophy. The patients developed slowly progressive involving mainly the extremities; onset was second fourth decades. Electromyography muscle biopsy were indicative denervation. Combined...
We have previously reported the mapping of chronic (type II/intermediate and type III/mild/Kugelberg-Welander) form childhood-onset spinal muscular atrophies (SMA) to chromosome 5q11.2–13.3, with evidence for nonallelic genetic heterogeneity within a small sample seven families [Brzustowicz et al., Nature 1990;344:540–541]. now report results linkage analysis testing on set 38 SMA. Significant was detected among these families, predominant locus SMA 0.51-cM region 5q, between loci D5S6...
Abstract This paper applies objective methods to explore the technological origins of widely acclaimed CRISPR breakthrough in domain genome engineering. Previously developed patent search techniques are first used recover a set patents that well-represent editing before CRISPR. Main paths then determined from citation network associated with this allowing identification three major knowledge trajectories. The most significant these trajectories for involves core less involving cloning and...
The disease locus for the clinically heterogeneous childhood spinal muscular atrophies (SMA) maps to chromosome 5 subregion, 5q11.2-13.3. beta-subunit of beta-D-N-acetylhexosaminidase (hexosaminidase) (EC 3.2.1.52) (Hex B) same region, and protein required substrate recognition by this enzyme, GM2-activator protein, likewise 5. We have investigated possibility allelic variation among some forms SMA hexosaminidase deficiency. Recombination between Hex B loci eliminates enzyme as a candidate...