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Page 1
Showing results for gain x
Search for Galin X instead (1 results)
Huntington's disease.
Walker FO. Walker FO. Lancet. 2007 Jan 20;369(9557):218-28. doi: 10.1016/S0140-6736(07)60111-1. Lancet. 2007. PMID: 17240289 Review.
Evidence suggests that this tail confers a toxic gain of function. The precise pathophysiological mechanisms of Huntington's disease are poorly understood, but research in transgenic animal models of the disorder is providing insight into causative factors and potential tr …
Evidence suggests that this tail confers a toxic gain of function. The precise pathophysiological mechanisms of Huntington's disease …
X chromosome gain in male breast cancer.
Di Oto E, Monti V, Cucchi MC, Masetti R, Varga Z, Foschini MP. Di Oto E, et al. Hum Pathol. 2015 Dec;46(12):1908-12. doi: 10.1016/j.humpath.2015.08.008. Epub 2015 Sep 3. Hum Pathol. 2015. PMID: 26475094 Free article.
All MBC cases harbored an X chromosome gain (100%) in a variable percentage of neoplastic cells, ranging from 31% to 85% (mean, 59%). ...These data suggest that this X chromosome gain plays a role in the neoplastic transformation of male breast epithel …
All MBC cases harbored an X chromosome gain (100%) in a variable percentage of neoplastic cells, ranging from 31% to 85% (mean …
[X-linked neutropenia caused by gain-of-function mutation in WAS gene: two cases report and literature review].
Xia Y, Huang Y, Huang YY, Yang J. Xia Y, et al. Zhonghua Er Ke Za Zhi. 2019 Aug 2;57(8):631-635. doi: 10.3760/cma.j.issn.0578-1310.2019.08.012. Zhonghua Er Ke Za Zhi. 2019. PMID: 31352750 Review. Chinese.
Objective: To investigate the clinical and genotypic manifestations of X-linked neutropenia caused by gain-of-function mutation in WAS gene. Methods: The clinical history of two patients with X-linked neutropenia caused by gain-of-function mutation in …
Objective: To investigate the clinical and genotypic manifestations of X-linked neutropenia caused by gain-of-function mutatio …
Potential pathogenic mechanisms underlying Fragile X Tremor Ataxia Syndrome: RAN translation and/or RNA gain-of-function?
Boivin M, Willemsen R, Hukema RK, Sellier C. Boivin M, et al. Eur J Med Genet. 2018 Nov;61(11):674-679. doi: 10.1016/j.ejmg.2017.11.001. Epub 2017 Dec 6. Eur J Med Genet. 2018. PMID: 29223504 Review.
Fragile X-associated tremor/ataxia syndrome (FXTAS) is an inherited neurodegenerative disease caused by an expansion of 55-200 CGG repeats located in the FMR1 gene. ...
Fragile X-associated tremor/ataxia syndrome (FXTAS) is an inherited neurodegenerative disease caused by an expansion of 55-200 CGG re …
X chromosome gain is related to increased androgen receptor expression in male breast cancer.
Di Oto E, Biserni GB, Varga Z, Morandi L, Cucchi MC, Masetti R, Foschini MP. Di Oto E, et al. Virchows Arch. 2018 Aug;473(2):155-163. doi: 10.1007/s00428-018-2377-2. Epub 2018 May 25. Virchows Arch. 2018. PMID: 29802469
X chromosome gain has been previously described in male breast cancer (MBC). Androgen receptor (AR) gene is located on X chromosome. ...X chromosome gain is paralleled by AR gene polysomy. Polysomic AR genes show low methylation levels and high …
X chromosome gain has been previously described in male breast cancer (MBC). Androgen receptor (AR) gene is located on X …
Acquired gain of an X chromosome as the sole abnormality in the blast crisis of chronic neutrophilic leukemia.
Yamamoto K, Nagata K, Kida A, Hamaguchi H. Yamamoto K, et al. Cancer Genet Cytogenet. 2002 Apr 1;134(1):84-7. doi: 10.1016/s0165-4608(01)00603-3. Cancer Genet Cytogenet. 2002. PMID: 11996803 Review.
A 73-year-old man was admitted to the hospital because of marked leukocytosis (leukocyte count 112.5 x 10(9)/L with 91% segmented neutrophils) and massive hepatosplenomegaly that was diagnosed as CNL with a normal karyotype. ...Furthermore, to our knowledge, this is the fi …
A 73-year-old man was admitted to the hospital because of marked leukocytosis (leukocyte count 112.5 x 10(9)/L with 91% segmented neu …
Redundancy gain in visual search of simulated X-ray images.
Hebert CR, Sha LZ, Remington RW, Jiang YV. Hebert CR, et al. Atten Percept Psychophys. 2020 May;82(4):1669-1681. doi: 10.3758/s13414-019-01934-x. Atten Percept Psychophys. 2020. PMID: 31907837
Cancer diagnosis frequently relies on the interpretation of medical images such as chest X-rays and mammography. This process is error prone; misdiagnoses can reach a rate of 15% or higher. ...Eye tracking showed that fixating on two or more images in the redundant conditi …
Cancer diagnosis frequently relies on the interpretation of medical images such as chest X-rays and mammography. This process is erro …
Evidence for a fragile X messenger ribonucleoprotein 1 (FMR1) mRNA gain-of-function toxicity mechanism contributing to the pathogenesis of fragile X-associated premature ovarian insufficiency.
Rosario R, Stewart HL, Choudhury NR, Michlewski G, Charlet-Berguerand N, Anderson RA. Rosario R, et al. FASEB J. 2022 Nov;36(11):e22612. doi: 10.1096/fj.202200468RR. FASEB J. 2022. PMID: 36250920 Free PMC article.
Fragile X-associated premature ovarian insufficiency (FXPOI) is among a family of disorders caused by expansion of a CGG trinucleotide repeat sequence located in the 5' untranslated region (UTR) of the fragile X messenger ribonucleoprotein 1 (FMR1) gene on the X …
Fragile X-associated premature ovarian insufficiency (FXPOI) is among a family of disorders caused by expansion of a CGG trinucleotid …
LSD1/PRMT6-targeting gene therapy to attenuate androgen receptor toxic gain-of-function ameliorates spinobulbar muscular atrophy phenotypes in flies and mice.
Prakasam R, Bonadiman A, Andreotti R, Zuccaro E, Dalfovo D, Marchioretti C, Tripathy D, Petris G, Anderson EN, Migazzi A, Tosatto L, Cereseto A, Battaglioli E, Sorarù G, Lim WF, Rinaldi C, Sambataro F, Pourshafie N, Grunseich C, Romanel A, Pandey UB, Contestabile A, Ronzitti G, Basso M, Pennuto M. Prakasam R, et al. Nat Commun. 2023 Feb 6;14(1):603. doi: 10.1038/s41467-023-36186-9. Nat Commun. 2023. PMID: 36746939 Free PMC article.
Androgen binding to polyQ-expanded androgen receptor triggers SBMA through a combination of toxic gain-of-function and loss-of-function mechanisms. Leveraging cell lines, mice, and patient-derived specimens, we show that androgen receptor co-regulators lysine-specific deme …
Androgen binding to polyQ-expanded androgen receptor triggers SBMA through a combination of toxic gain-of-function and loss-of-functi …
X-ray imaging with amorphous selenium: X-ray to charge conversion gain and avalanche multiplication gain.
Hunt DC, Kirby SS, Rowlands JA. Hunt DC, et al. Med Phys. 2002 Nov;29(11):2464-71. doi: 10.1118/1.1513157. Med Phys. 2002. PMID: 12462710
Conversion gain and avalanche multiplication in a-Se were investigated as a function of electric field from 10 to 100 V/microm. Our results show a factor of 4 increase in conversion gain is available by increasing electric field from the current standard of 10 V/mic …
Conversion gain and avalanche multiplication in a-Se were investigated as a function of electric field from 10 to 100 V/microm. Our r …
4,665 results