نتایج جستجو برای: linked dominant
تعداد نتایج: 361300 فیلتر نتایج به سال:
A form of autosomal dominant retinitis pigmentosa (ADRP) mapping to chromosome 17p has been reported in a single large South African family. We now report a new family with severe early onset ADRP which maps to 17p. Linkage and haplotype analysis in this family places the ADRP locus in the 5 cM interval between markers AFMc024za5 and D17S1845, confirming the data obtained in the South African f...
سلول های سرطانی در نتیجه تقسیم خارج از کنترل ایجاد می شوند، به سرعت رشد کرده متاستاز نموده و بافت های بسیاری را در گیر می کنند. آنتی ژن های سطحی در سلول های سرطانی دچار تغییر می شوند که به شناسایی آنها توسط سلول های ایمنی کمک می کند. از آن جایی که یکی از مهم ترین علل مرگ و میر در جوامع بشری سرطان می باشد، شناسایی و از بین بردن سلول های سرطانی از مهم ترین دغدغه های فکری می باشد. به طور کلی عصار...
Craniofrontonasal syndrome (CFNS, OMIM 304110) is a distinctive genetic disorder whose main clinical manifestations include coronal synostosis, widely spaced eyes, clefting of the nasal tip and various skeletal anomalies. CFNS originally was thought to be transmitted as an autosomal dominant trait, but recent studies suggest that it is X-linked dominant, whereby all daughters of males are affec...
We report on a child with the brachytelephalangic type of chondrodysplasia punctata, a very rare form of the disease. At birth, the patient was originally diagnosed with the Conradi-Hunermann type, a more common and severe type. A pediatric radiologist questioned the diagnosis and followed up with the patient, who is now three years old. Based on the clinical and radiographic findings, it was c...
The polyproline type II (PPII) helix is a prevalent conformation in both folded and unfolded proteins, and is known to play important roles in a wide variety of biological processes. Polyproline itself can also form a type I (PPI) helix, which has a disparate conformation. Here, we use derivatives of polyproline, (Pro)10, (Hyp)10, (Flp)10, and (flp)10, where Hyp is (2S,4R)-4-hydroxyproline, Flp...
We ascertained a multi-generation Malaysian family with Joubert syndrome (JS). The presence of asymptomatic obligate carrier females suggested an X-linked recessive inheritance pattern. Affected males presented with mental retardation accompanied by postaxial polydactyly and retinitis pigmentosa. Brain MRIs showed the presence of a "molar tooth sign," which classifies this syndrome as classic J...
Some of the literature describing X-linked dominant manic-depressive illness is reviewed. A family with manic-depressive illness, red green color blindness, Xg blood group, and vitamin B12 deficiency, all located on the same X chromosome through four generations, is described. In the family studied the gene for manicdepressive illness and the gene for vitamin B-12 deficiency occupy the same loc...
Kia Homayounfar ([email protected]) Johanna Meis ([email protected]) Klaus Jung ([email protected]) Bernd Klosterhalfen ([email protected]) Thilo Sprenger ([email protected]) Lena-Christin Conradi ([email protected]) Claus Langer ([email protected]) Heinz Becker (hbecker@chirurgie-go...
To assess the impact of 'top-up' normoxic or hypoxic repeat-sprint training on sea-level repeat-sprint ability, thirty team sport athletes were randomly split into three groups, which were matched in running repeat-sprint ability (RSA), cycling RSA and 20 m shuttle run performance. Two groups then performed 15 maximal cycling repeat-sprint training sessions over 5 weeks, in either normoxia (NOR...
According to a prevailing theory, (2S,4R)-4-hydroxyproline (Hyp) residues stabilize the collagen triple helix via a stereoelectronic effect that preorganizes appropriate backbone torsion angles for triple-helix formation. This theory is consistent with the marked stability that results from replacing the hydroxyl group with the more electron-withdrawing fluoro group, as in (2S,4R)-4-fluoroproli...
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