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Human Genetics

Recent Publications on human genetics :

Long QT Syndrome-Associated Mutations in KCNQ1 and KCNE1 Subunits Disrupt Normal Endosomal Recycling of IKs Channels.
Physical and emotional stress is accompanied by release of stress hormones...
Department of Physiology I, University of Tuebingen, Germany; Department Circ Res. 2008 Nov 13.
DOI Direct Link
Deficiency of Growth Differentiation Factor 3 Protects Against Diet-Induced Obesity by Selectively Acting On White Adipose.
Growth differentiation factor 3 (GDF3) is a member of the TGFbeta...
Children's Hospital of Central California, Departments of Molecular and Mol Endocrinol. 2008 Nov 13.
DOI Direct Link
Disruption of nesprin-1 produces an Emery Dreifuss Muscular Dystrophy-like phenotype in mice.
Mutations in the gene encoding the inner nuclear membrane proteins lamins...
Department of Human Genetics, The University of Chicago, Chicago, IL. Hum Mol Genet. 2008 Nov 13.
DOI Direct Link
Structure and function of gamma-secretase.
The gamma-secretase complex is a prime target for pharmacological...
Center for Human Genetics, KULeuven and Department for Developmental and Semin Cell Dev Biol. 2008 Nov 1.
DOI Direct Link
A large kindred with X-linked neutropenia with an I294T mutation of the Wiskott-Aldrich syndrome gene.
X-linked neutropenia (XLN, OMIM #300299) is a rare form of severe...
Centre for Human Genetics/Department of Haematology, University Hospital Br J Haematol. 2008 Nov 1.
DOI Direct Link

Patents:

US Patent No.Title
7410944 Depression gene
7425325 Cytokine zcytor17 ligand polypeptides
7425416 Genetic analysis and authentication
7425618 Stabilized anti-respiratory syncytial virus (RSV) antibody formulations
7425619 Fc.gamma.RIIB specific antibodies and methods of use thereof