Search Results - "Pindolia, Kirit"

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    Biotinidase deficiency mimicking neuromyelitis optica: Initially exhibiting symptoms in adulthood by Bottin, Laure, Prud’hon, Sabine, Guey, Stéphanie, Giannesini, Claire, Wolf, Barry, Pindolia, Kirit, Stankoff, Bruno

    Published in Multiple sclerosis (01-10-2015)
    “…Background: Children with untreated biotinidase deficiency can experience variable symptoms depending on their age of presentation. Older children and…”
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    Neurological deficits in mice with profound biotinidase deficiency are associated with demylination and axonal degeneration by Pindolia, Kirit, Chen, Jieli, Cardwell, Cisley, Cui, Xu, Chopp, Michael, Wolf, Barry

    Published in Neurobiology of disease (01-09-2012)
    “…Abstract Biotinidase deficiency is an autosomal recessively inherited disorder characterized by neurological and cutaneous abnormalities. We have developed a…”
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    First contiguous gene deletion causing biotinidase deficiency: The enzyme deficiency in three Sri Lankan children by Senanayake, Danika Nadeen, Jasinge, Eresha. A., Pindolia, Kirit, Wanigasinghe, Jithangi, Monaghan, Kristin, Suchy, Sharon F., Wei, Sainan, Jaysena, Subashini, Wolf, Barry

    Published in Molecular genetics and metabolism reports (01-03-2015)
    “…We report three symptomatic children with profound biotinidase deficiency from Sri Lanka. All three children presented with typical clinical features of the…”
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    Purification and Characterization of the Simian Virus 40 Transcription Elongation Complex by Pindolia, Kirit R., Lutter, Leonard C.

    Published in Journal of molecular biology (24-06-2005)
    “…The transcriptional regulatory region of the simian virus 40 minichromosome that is being transcribed in the cell is nucleosome-free, while that of the…”
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    Analysis of mutations causing biotinidase deficiency by Pindolia, Kirit, Jordan, Megan, Wolf, Barry

    Published in Human mutation (01-09-2010)
    “…Biotinidase deficiency is an inherited disorder in which the vitamin, biotin, is not recycled. Individuals with biotinidase deficiency can develop neurological…”
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    Pristimerin, a quinonemethide triterpenoid, induces apoptosis in pancreatic cancer cells through the inhibition of pro-survival Akt/NF-κB/mTOR signaling proteins and anti-apoptotic Bcl-2 by DEEB, DORRAH, GAO, XIAOHUA, LIU, YONG BO, PINDOLIA, KIRIT, GAUTAM, SUBHASH C

    Published in International journal of oncology (01-05-2014)
    “…Lack of effective therapeutics for pancreatic cancer at the present time underscores the dire need for safe and effective agents for the treatment of this…”
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    Developmental window of sensorineural deafness in biotinidase-deficient mice by Maheras, Kathleen June, Pindolia, Kirit, Wolf, Barry, Gow, Alexander

    Published in Journal of inherited metabolic disease (01-09-2017)
    “…Biotinidase deficiency is an autosomal recessively inherited disorder that results in the inability to recycle the vitamin, biotin. If untreated, the disorder…”
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    Characterization and functional analysis of cellular immunity in mice with biotinidase deficiency by Pindolia, Kirit, Li, Hong, Cardwell, Cisley, Wolf, Barry

    Published in Molecular genetics and metabolism (01-05-2014)
    “…Biotinidase deficiency is an autosomal recessively inherited metabolic disorder that can be easily and effectively treated with pharmacological doses of the…”
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    Ubiquitin-proteasomal degradation of antiapoptotic survivin facilitates induction of apoptosis in prostate cancer cells by pristimerin by LIU, YONG BO, GAO, XIAOHUA, DEEB, DORAH, BRIGOLIN, CHRIS, ZHANG, YIGUAN, SHAW, JIAJIU, PINDOLIA, KIRIT, GAUTAM, SUBHASH C

    Published in International journal of oncology (01-10-2014)
    “…Pristimerin (PM), a quinonemethide triterpenoid, is a promising anticancer agent with potent antiproliferative and apoptosis-inducing activities against cancer…”
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    Inhibition of hTERT/telomerase contributes to the antitumor activity of pristimerin in pancreatic ductal adenocarcinoma cells by DEEB, DORRAH, GAO, XIAOHUA, LIU, YONGBO, PINDOLIA, KIRIT, GAUTAM, SUBHASH C

    Published in Oncology reports (01-07-2015)
    “…Pristimerin (PM) is a promising anticancer agent that has exhibited strong antiproliferative and apoptosis-inducing activity in various types of cancer cells…”
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    Analysis of mutations causing biotinidase deficiencya by Pindolia, Kirit, Jordan, Megan, Wolf, Barry

    Published in Human mutation (01-09-2010)
    “…Biotinidase deficiency is an inherited disorder in which the vitamin, biotin, is not recycled. Individuals with biotinidase deficiency can develop neurological…”
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    Journal Article
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    Differential gene expression during early development in brains of wildtype and biotinidase-deficient mice by Brigolin, Christian, McKenty, Nathan, Pindolia, Kirit, Wolf, Barry

    Published in Molecular genetics and metabolism reports (01-12-2016)
    “…Biotinidase deficiency is an autosomal recessively inherited disorder characterized by neurological and cutaneous abnormalities. Untreated individuals with…”
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    Three dimensional structure of human biotinidase: Computer modeling and functional correlations by Pindolia, Kirit, Jensen, Kevin, Wolf, Barry

    Published in Molecular genetics and metabolism (01-09-2007)
    “…Untreated individuals with deficient activity of biotinidase, the enzyme responsible for recycling the vitamin biotin, usually exhibit neurological and…”
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    Development and characterization of a mouse with profound biotinidase deficiency: A biotin-responsive neurocutaneous disorder by Pindolia, Kirit, Jordan, Megan, Guo, Caiying, Matthews, Nell, Mock, Donald M., Strovel, Erin, Blitzer, Miriam, Wolf, Barry

    Published in Molecular genetics and metabolism (01-02-2011)
    “…Biotinidase deficiency is the primary enzymatic defect in biotin-responsive, late-onset multiple carboxylase deficiency. Untreated children with profound…”
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    Role of telomerase in anticancer activity of pristimerin in prostate cancer cells by Liu, Yong Bo, Gao, Xiaohua, Deeb, Dorrah, Pindolia, Kirit, Gautam, Subhash C

    “…Pristimerin (PM) is a quinonemethide triterpenoid present in various plant species with strong antiprolifertive and proapoptotic activities in cancer cells…”
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    Mutations in the von Hippel-Lindau (VHL) gene refine differential diagnostic criteria in renal cell carcinoma by Barnabas, Nandita, Amin, Mitual B., Pindolia, Kirit, Nanavati, Reshma, Amin, Mahul B., Worsham, Maria J.

    Published in Journal of surgical oncology (01-05-2002)
    “…Background and Objectives Renal cell carcinomas (RCC) with abundant granular cytoplasm include oncocytomas, eosinophillic variants of chromophobe RCC,…”
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