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Full-Text Articles in Genetics and Genomics
Bloom's Syndrome, Maureen M. Sanz Ph.D., Facmg, James German M.D., Christopher Cunniff M.D.
Bloom's Syndrome, Maureen M. Sanz Ph.D., Facmg, James German M.D., Christopher Cunniff M.D.
Faculty Works: Biology, Chemistry, and Environmental Studies
Bloom’s syndrome (BSyn) is characterized by severe pre- and postnatal growth deficiency, sparseness of subcutaneous fat tissue throughout infancy and early childhood, and short stature throughout postnatal life that in most affected individuals is accompanied by an erythematous and sun-sensitive skin lesion of the face. Gastroesophageal reflux (GER) is common and very possibly responsible for infections of the upper respiratory tract, the middle ear, and the lung that occur repeatedly in most persons with BSyn. Although most affected individuals have normal intellectual ability, many exhibit a poorly defined learning disability. Women may be fertile, but menopause occurs unusually early; men …
Multiple Immuno-Regulatory Defects In Type-1 Diabetes, Anjli Kukreja, Giulia Cost, John Marker, Chenhui Zhang, Karen Lin-Su, Zhong Sun, Svetlana Ten, Maureen M. Sanz, Mark Exley, Brian Wilson, Steven Porcelli
Multiple Immuno-Regulatory Defects In Type-1 Diabetes, Anjli Kukreja, Giulia Cost, John Marker, Chenhui Zhang, Karen Lin-Su, Zhong Sun, Svetlana Ten, Maureen M. Sanz, Mark Exley, Brian Wilson, Steven Porcelli
Faculty Works: Biology, Chemistry, and Environmental Studies
Susceptibility to immune-mediated diabetes (IMD) in humans and NOD mice involves their inherently defective T cell immunoregulatory abilities. We have followed natural killer (NK) T cell numbers in patients with IMD, both by flow cytometry using mAbs to the characteristic junctions found in the T cell receptors of this cell subtype, and by semiquantitative RT-PCR for the corresponding transcripts. Both before and after clinical onset, the representation of these cells in patients’ PBMCs is reduced. We also report low numbers of resting CD4+ CD25+ T cells in IMD patients, a subset of T cells shown to have important immunoregulatory functions …
The Dna Helicase Activity Of Blm Is Necessary For The Correction Of The Genomic Instability Of Bloom Syndrome Cells, Norma F. Neff, Nathan A. Ellis, Tian Zhang Ye, James Noonan, Kelly Huang, Maureen M. Sanz, Maria Proytcheva
The Dna Helicase Activity Of Blm Is Necessary For The Correction Of The Genomic Instability Of Bloom Syndrome Cells, Norma F. Neff, Nathan A. Ellis, Tian Zhang Ye, James Noonan, Kelly Huang, Maureen M. Sanz, Maria Proytcheva
Faculty Works: Biology, Chemistry, and Environmental Studies
Bloom syndrome (BS) is a rare autosomal recessive disorder characterized by growth deficiency, immunodeficiency, genomic instability, and the early development of cancers of many types. BLM, the protein encoded by BLM, the gene mutated in BS, is localized in nuclear foci and absent from BS cells. BLM encodes a DNA helicase, and proteins from three missense alleles lack displacement activity. BLM transfected into BS cells reduces the frequency of sister chromatid exchanges and restores BLM in the nucleus. Missense alleles fail to reduce the sister chromatid exchanges in transfected BS cells or restore the normal nuclear pattern. BLM complements a …