Phenomics and lamins: from disease to therapy.

Phenomics and lamins: from disease to therapy. Research Abstract Details 

Research Abstract Table of Contents

Jump to the:

Phenomics and lamins: from disease to therapy. Abstract Text:

Robert A Hegele,Junko Oshima,

Systematic correlation of phenotype with genotype is a key goal of the emerging field of phenomics, which is expected to help define complex diseases. Careful evaluation of phenotype-genotype associations in monogenic disorders, such as laminopathies, might provide new hypotheses to be tested with molecular and cellular studies and might also suggest potential new intervention strategies. For instance, evaluation of the clinical features of carriers of mutant LMNA in kindreds with familial partial lipodystrophy suggests rational, staged intervention using established pharmaceutical agents to prevent cardiovascular complications not just for patients with lipodystrophy but by extension for patients with the common metabolic syndrome. Careful non-invasive imaging shows phenotypic differences between partial lipodystrophy due to mutant LMNA and not due to mutant LMNA. Furthermore, hierarchical cluster analysis detects systematic relationships between organ involvement in laminopathies and mutation position in the LMNA genomic sequence. However, sometimes the same LMNA mutation can underlie markedly different clinical phenotypes; cellular and molecular experiments can help to explain the mechanistic basis for such differences. Finally, promising novel treatment modalities for laminopathies, such as farnesyl transferase inhibition and gene-based therapies, might help not only to illuminate mechanisms that link genotype to phenotype, but also to provide hope for patients suffering with laminopathies, since these treatments are designed to modulate key early or proximal steps in the pathogenesis of these disorders.

Phenomics and lamins: from disease to therapy. Publishing Authors By Initials

RA Hegele,J Oshima,

For similar genetic phenomena: phenotype research abstracts see: genetic phenomena: phenotype research

PUBMED ID PMID:

MEDLINE DATE:

Phenomics and lamins: from disease to therapy. Journal Published:

PUBLICATION TYPE: Review

Journal: Experimental cell research

VOLUME: 313

Page Numbers: 2134-43

Journal Abbreviation: Exp. Cell Res.

ISSN: 0014-4827

DAY: 30

MONTH: 03

YEAR: 2007

Phenomics and lamins: from disease to therapy. Information

Number of References: 67

LANGUAGE: eng

NlmUniqueID: 373226

Phenomics and lamins: from disease to therapy. Keywords Mesh Terms:

KEYWORDS: Phenotype

MESH TERMS: genetics

Chemical & Substance for Abstract: Phenomics and lamins: from disease to therapy. Information

Substance Name: Lamin Type A

Registry Number: 0

Grant and Affiliation Information for Phenomics and lamins: from disease to therapy.

AFFILIATION: Schulich School of Medicine and Dentistry, University of Western Ontario and Vascular Biology Research Group, Robarts Research Institute, London, Ontario, Canada N6A 5K8. hegele@robarts.ca

Country: United States

AGENCY: United States NCI

GRANT: R24 CA78088

ACRONYM: CA

MEDLINETA: Exp Cell Res

REFSOURCE:

DATABASENAME:

ACCESSION NUMBER:

Number Hits: 0

Phenomics and lamins: from disease to therapy Related Publications

• Antiferromagnetic Ordering Driven by the Molecular Orbital Order of C60 in alpha;{'}-Tetra-Kis-(Dimethylamino)-Ethylene-C60.
• Bacteriophage phiNS11: a lipid-containing phage of acidophilic thermophilic bacteria. II. Purification and some properties of the phage.
• Bacteriophage phiNS11: a lipid-containing phage of acidophilic thermophilic bacteria. III. Characterization of viral components.
• C-type cytochromes isloated from an extreme thermophile, Thermus thermophilus HB8.
• Cancer survival trends in Osaka, Japan: the influence of age and stage at diagnosis.
• Changing expression of ABH blood group and cryptic T-antigens of noninvasive and superficially invasive papillary transitional cell carcinoma of the bladder from initial occurrence to malignant progression.
• Distinctive change in male liver cancer incidence rate between the 1970s and 1990s in Japan: comparison with Japanese-Americans and US whites.
• Effective structure of a leader open reading frame for enhancing the expression of GC-rich genes.
• Ets2 is required for trophoblast stem cell self-renewal.
• Hospital procedure volume and survival of cancer patients in Osaka, Japan: a population-based study with latest cases.
• Identification of glucosyl sphingosine from Gaucher's spleen by gas chromatography-electron impact and GC-chemical ionization mass spectrometry.
• Isolation and characterization of virulent yellowtail ascites virus.
• Kinetic studies on redox reactions of hemoproteins. II. Reduction of thermoresistant cytochrome c-552 and horse heart cytochrome c by ascorbic acid.
• Microwave-assisted palladium-catalyzed direct arylation of 1,4-disubstituted 1,2,3-triazoles with aryl chlorides.
• Nickel-catalyzed beta-boration of alpha,beta-unsaturated esters and amides with bis(pinacolato)diboron.
• Non-contact three-dimensional mapping and ablation of swallowing-induced atrial tachyarrhythmias: two case reports.
• Phenomics and lamins: from disease to therapy.
• Polypeptide synthesis directed by DNA as a messenger in cell-free polypeptide synthesis by extreme thermophiles, Thermus thermophilus HB27 and Sulfolobus tokodaii strain 7.
• Purification and characterization of arylamidase from monkey brain.
• Purification and properties of oxytocinase (cystine amino-peptidase) from monkey placenta.
• Purification and some properties of cytochrome c-552 from an extreme thermophile, Thermus thermophilus HB8.
• SOD2 polymorphisms: unmasking the effect of polymorphism on splicing.
• Synthesis of (arylalkenyl)silanes by palladium-catalyzed regiospecific and stereoselective allyl transfer from silyl-substituted homoallyl alcohols to aryl halides.
• Synthesis of Benzo[b]thiophenes by Cyclization of Arylketene Dithioacetal Monoxides under Pummerer-like Conditions.
• Synthesis of various phosphodiesters and phosphomonoesters with ribonuclease N.
• Unique polyamines produced by an extreme thermophile, Thermus thermophilus.
• [Considerations for home environment of patients with dementia]
• [Effects of skill level on individual behavioral counseling for smoking cessation]
• [Relations of clinicopathological findings to expression of ABH blood group and Thomsen-Friedenrich antigens in initially superficial papillary transitional cell carcinomas of the bladder developing subsequent malignant progression]
• [Vitamin K2 as a potential therapeutic agent for glucocorticoid-induced osteoporosis]