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The Saccharomyces cerevisiae COQ10 gene encodes a START domain protein required for function of coenzyme Q in respiration
(Amer Soc Biochemistry Molecular Biology Inc, 2005-12-30)
Deletion of the Saccharomyces cerevisiae gene YOL008W, here referred to as COQ10, elicits a respiratory defect as a result of the inability of the mutant to oxidize NADH and succinate. Both activities are restored by ...
Multiple protein domains contribute to nuclear import and cell toxicity of DUX4, a candidate pathogenic protein for facioscapulohumeral muscular dystrophy
(Public Library Science, 2013-10-08)
DUX4 (Double Homeobox Protein 4) is a nuclear transcription factor encoded at each D4Z4 unit of a tandem-repeat array at human chromosome 4q35. DUX4 constitutes a major candidate pathogenic protein for facioscapulohumeral ...
Duplication 5q and deletion 9p due to a t(5;9)(q34;p23) in 2 cousins with features of Hunter-McAlpine syndrome and hypothyroidism
(2011)
We report on 2 similarly affected cousins with a compound imbalance resulting from a familial t(5;9)(q34;p23) and entailing both an ∼17-Mb 5q terminal duplication and an ∼12-Mb 9p terminal deletion as determined by G-banding, ...
Duplication 5q and deletion 9p due to a t(5;9)(q34;p23) in 2 cousins with features of Hunter-McAlpine syndrome and hypothyroidism
(2011)
We report on 2 similarly affected cousins with a compound imbalance resulting from a familial t(5;9)(q34;p23) and entailing both an ?17-Mb 5q terminal duplication and an ?12-Mb 9p terminal deletion as determined by G-banding, ...
Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3
(Nature Publishing, 2015)
Duplications in the similar to 2 Mb desert region upstream of SOX9 at 17q24.3 may result in familial 46, XX disorders of sex development (DSD) without any effects on the XY background. A balanced translocation with its ...
CO2 and O2 sensing behavior of nanostructured barium-doped SmCoO3
(2012)
Cognitive, emotional, and behavioral characterizations have been reported for patients with a few chromosomal imbalances, but not for patients with a 13q deletion. We report the neuropsychological profile and specific ...
Duplication 9p and their implication to phenotype
(Biomed Central Ltd, 2014-12-20)
Background: Trisomy 9p is one of the most common partial trisomies found in newborns. We report the clinical features and cytogenomic findings in five patients with different chromosome rearrangements resulting in complete ...