Results 11 to 20 of about 269 (206)
Congenital Telangiectatic Erythema: Scoping Review
JMIR Dermatology, 2023 BackgroundCongenital telangiectatic erythema (CTE), also known as Bloom syndrome, is a rare autosomal recessive disorder characterized by below-average height, a narrow face, a red skin rash occurring on sun-exposed areas of the ...
Magda Sara Wojtara +2 more
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The X chromosome: does it have a role in Bloom syndrome, a genomic instability disorder?
The Turkish Journal of Pediatrics, 2014 The Bloom syndrome, caused by mutations in a single gene [BLM (15q26.1)], is a rare genomic instability syndrome. Despite its autosomal recessive transmission, it shows a male dominance, suggesting the possibility of a subgroup with X-linked ...
Deniz Aslan
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TELOMERES AND TELOMERASE COMPLEX. THE MAIN CLINICAL MANIFESTATION OF GENETIC MALFUNCTIONING
Кардиоваскулярная терапия и профилактика, 2015 Telomeres and telomerase complex have got be known by scientists not long ago. At the current moment there quite large data on this topic collected.
О. М. Drapkina, R. N. Shepel
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The Werner syndrome protein is distinguished from the Bloom syndrome protein by its capacity to tightly bind diverse DNA structures. [PDF]
PLoS ONE, 2012 Loss of Werner syndrome helicase-exonuclease (WRN) or of its homolog Bloom syndrome helicase (BLM) results in different inherited disorders. Whereas Werner syndrome is characterized by premature onset of aging and age-associated diseases, Bloom syndrome ...
Ashwini Kamath-Loeb +2 more
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Stem Cell Research, 2020 Bloom syndrome is characterized by severe pre- and postnatal growth deficiency, immune abnormalities, sensitivity to sunlight, insulin resistance, and a high risk for many cancers that occur at an early age. The diagnosis is established on characteristic
Vincent Gatinois +7 more
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International Journal of Dermatology, 2014 AbstractBloom Syndrome (BS, MIM #210900) is an autosomal recessive genetic disorder caused by a mutation in the BLM gene, which codes for the DNA repair enzyme RecQL3 helicase. Without proper DNA repair mechanisms, abnormal DNA exchange takes place between sister chromatids and results in genetic instability that may lead to cancer, especially lymphoma
Harleen, Arora +6 more
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PATIENTS AT RISK OF THEIR ETHNIC BACKGROUND [PDF]
Romanian Journal of Pediatrics, 2009 This article discuss genetic disorders that appear with increased frequency in certain ethnic groups: – Ashkenazi jews: Tay-Sachs disease, adult Gaucher’s disease – type I, Niemann-Pick disease, mucolipidosis (type IV), pentosuria, Bloom syndrome ...
Valeriu Popescu
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Bloom syndrome helicase contributes to germ line development and longevity in zebrafish
Cell Death and Disease, 2022 RecQ helicases—also known as the “guardians of the genome”—play crucial roles in genome integrity maintenance through their involvement in various DNA metabolic pathways.
Tamás Annus +8 more
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Pancreatic cancer in bloom syndrome
SAGE Open Medical Case Reports, 2019 Bloom syndrome is a rare autosomal recessive disorder characterized by distinct physical features, such as short stature, genomic instability, and predisposition to numerous cancers. The BLM gene encodes for the RecQ helicase that plays an important role
Itai Tzfoni +6 more
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Biochemical properties of naturally occurring human bloom helicase variants
PLoS ONE, 2023 Bloom syndrome helicase (BLM) is a RecQ-family helicase implicated in a variety of cellular processes, including DNA replication, DNA repair, and telomere maintenance. Mutations in human BLM cause Bloom syndrome (BS), an autosomal recessive disorder that
Rachel R. Cueny +3 more
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