Lindor NM, Valdes MG, Wick M, Thibodeau SN, Jalal S. De novo 16p deletion: ATR-16 syndrome. Am J Med Genet 1997;72:451-4.Lindor NM, Valdes MG, Wick M, Thibodeau SN, Jalal S (1997) De novo 16p deletion: ATR-16 syndrome. Am J Med Genet 72:451-454...
ATR-16 syndrome is due to alterations on chromosome 16p13.3, and is usually accompanied by alpha-thalassemia, mild-moderate mental retardation, dysmorphic facial features, skeletal and genitourinary malformations. There are no references of the combination of ATR-16 syndrome and osteosarcoma in the lit...
[3]Wada T, Suzuki S, Shioda N, et al.5-Aminolevulinic acid can ameliorate language dysfunction of patients with ATR-X syndrome[J]. Congenit Anom (Kyoto), 2020, 60(5): 147-148. DOI: 10.1111/cga.12365. [4]Le...
The ATR-16 syndrome (alpha-thalasse- mia with mental retardation linked to chromosome 16) patients do not exhibit the facial dysmorphism observed in ATR-X syndrome nor the same degree of mental handicap. Function of the protein The ATR-X protein is a nuclear protein found principally ...
ATR mutations cause Seckel syndrome. Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved. ATR Achilles tendon reflex, seeAnkle reflex. McGraw-Hill Concise Dictionary of Modern Medicine. © 2002 by The McGraw-Hill Companies, Inc. ...
T., et al. (2012) Opposing effects of fructokinase C and A isoforms on fructose-induced metabolic syndrome in mice. Proc. Natl. Acad. Sci. U.S.A. 109, 4320–4325 5. Lanaspa M. A., Sanchez-Lozada L. G., Choi Y. J., Cicerchi C., Kanbay M., Roncal-Jimenez C. A., ...
Ataxia Telangiectasia and Rad3-related protein (ATR) regulates the DNA damage response (DDR)3and protects genome integrity by regulating multiple pathways4. ATR mutations cause the Seckel syndrome, an autosomal recessive disorder characterized by growth retardation, dwarfism, and microcephaly with mental...
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Canada The Chudley–Lowry syndrome (ChLS, MIM 309490) is an X-linked recessive condition characterized by moderate to severe mental retardation, short stature, mild obesity, hypogonadism, and distinctive facial features characterized by depressed nasal bridge, anteverted nares, inverted-V-shaped upper...
A double-strand-break-sensing complex that contains meiotic recombination protein-11 (MRE11), RAD50 and Nijmegen breakage syndrome protein-1 (NBS1) and that is important in the recruitment and activation of ataxia-telangiectasia mutated (ATM) kinase. Cellular senescence A nearly irreversible stage ...