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Four Novel Thymidine Phosphorylase Gene Mutations In Mitochondrial Neurogastrointestinal Encephalomyopathy Syndrome (Mngie) Patients
(Nature Publishing Group, 2003)
Mitochondrial neurogastrointestinal encephalomyopathy syndrome (MNGIE) is a rare autosomal recessive neurologic disorder characterised by multiple mitochondrial DNA deletions. In this study, five Turkish IVINGIE patients ...
Alx4 Dysfunction Disrupts Craniofacial and Epidermal Development
(Oxford Univ Press, 2009)
Genetic control of craniofacial morphogenesis requires a complex interaction of numerous genes encoding factors essential for patterning and differentiation. We present two Turkish families with a new autosomal recessive ...
Cpg Methylation In The Fhit Regulatory Region: Relation To Fhit Expression In Murine Tumors
(Nature Publishing Group, 2004)
To determine if: (1) 5' CpG island methylation is related to Fhit inactivation; (2) there are tumor or carcinogen-specific methylation patterns, we examined 35 CpG sites in the promoter, exon and intron 1 of the mouse Fhit ...
Worldwide Distribution And Broader Clinical Spectrum Of Muscle-Eye-Brain Disease
(Oxford Univ Press, 2003)
Muscle-eye-brain disease (MEB), an autosomal recessive disorder prevalent in Finland, is characterized by congenital muscular dystrophy, brain malformation and ocular abnormalities. Since the MEB phenotype overlaps ...
Targeting Critical Steps of Cancer Metastasis and Recurrence Using Telomerase Template Antagonists
(Elsevier Science Bv, 2009)
Metastasis, tumor relapse, and drug resistance remain major obstacles in the treatment of cancer. Therefore, more research on the mechanisms of these processes in disease is warranted for improved treatment options. Recent ...
Comparison Of Hcmv Ie And Ef-1 Alpha Promoters For The Stable Expression Of Beta-Subunit Of Hexosaminidase In Cho Cell Lines
(Springer/Plenum Publishers, 2006)
Parathyroid Hormone and Parathyroid Hormone-Related Protein Exert Both Pro- and Anti-Apoptotic Effects In Mesenchymal Cells
(Amer Soc Biochemistry Molecular Biology Inc, 2002)
During bone formation, multipotential mesenchymal cells proliferate and differentiate into osteoblasts, and subsequently many die because of apoptosis. Evidence suggests that the receptor for parathyroid hormone (PTH) and ...
X-Linked Recessive Inheritance Of Radial Ray Deficiencies In A Family With Four Affected Males
(Nature Publishing Group, 2001)
Radial ray deficiencies are frequently associated with additional clinical anomalies and have a heterogeneous aetiology. X-linked forms are extremely rare. We report a family in which four male relatives show bilateral ...
Is the Novel Sckl3 at 14Q23 the Predominant Seckel Locus?
(Nature Publishing Group, 2003)
Seckel syndrome (SCKL) is a rare disease with wide phenotypic heterogeneity. A locus (SCKL1) has been identified at 3q and another (SCKL2) at 18p, both in single kindreds afflicted with the syndrome. We report here a novel ...
Evidence From Autoimmune Thyroiditis Of Skewed X-Chromosome Inactivation In Female Predisposition To Autoimmunity
(Nature Publishing Group, 2006)
The etiologic factors in the development of autoimmune thyroid diseases (AITDs) are not fully understood. We investigated the role of skewed X-chromosome inactivation (XCI) mosaicism in female predisposition to AITDs. One ...