Search Results - "Bidichandani, Sanjay I."

Friedreich ataxia- pathogenesis and implications for therapies by Delatycki, Martin B., Bidichandani, Sanjay I.

“…Friedreich ataxia is the most common of the hereditary ataxias. It is due to homozygous/compound heterozygous mutations in FXN. This gene encodes frataxin, a…”
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DNA methylation in Friedreich ataxia silences expression of frataxin isoform E by Rodden, Layne N., Gilliam, Kaitlyn M., Lam, Christina, Rojsajjakul, Teerapat, Mesaros, Clementina, Dionisi, Chiara, Pook, Mark, Pandolfo, Massimo, Lynch, David R., Blair, Ian A., Bidichandani, Sanjay I.

“…Epigenetic silencing in Friedreich ataxia (FRDA), induced by an expanded GAA triplet-repeat in intron 1 of the FXN gene, results in deficiency of the…”
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Epigenetic Heterogeneity in Friedreich Ataxia Underlies Variable FXN Reactivation by Rodden, Layne N, Gilliam, Kaitlyn M, Lam, Christina, Lynch, David R, Bidichandani, Sanjay I

“…Friedreich ataxia (FRDA) is typically caused by homozygosity for an expanded GAA triplet-repeat in intron 1 of the gene. The expanded repeat induces repressive…”
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Epigenetic silencing in Friedreich ataxia is associated with depletion of CTCF (CCCTC-binding factor) and antisense transcription by De Biase, Irene, Chutake, Yogesh K, Rindler, Paul M, Bidichandani, Sanjay I

“…Over 15 inherited diseases are caused by expansion of triplet-repeats. Friedreich ataxia (FRDA) patients are homozygous for an expanded GAA triplet-repeat…”
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Pms2 suppresses large expansions of the (GAA·TTC)n sequence in neuronal tissues by Bourn, Rebecka L, De Biase, Irene, Pinto, Ricardo Mouro, Sandi, Chiranjeevi, Al-Mahdawi, Sahar, Pook, Mark A, Bidichandani, Sanjay I

“…Expanded trinucleotide repeat sequences are the cause of several inherited neurodegenerative diseases. Disease pathogenesis is correlated with several features…”
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FXN Promoter Silencing in the Humanized Mouse Model of Friedreich Ataxia by Chutake, Yogesh K, Costello, Whitney N, Lam, Christina C, Parikh, Aniruddha C, Hughes, Tamara T, Michalopulos, Michael G, Pook, Mark A, Bidichandani, Sanjay I

“…Friedreich ataxia is caused by an expanded GAA triplet-repeat sequence in intron 1 of the FXN gene that results in epigenetic silencing of the FXN promoter…”
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Progressive gaa expansions in dorsal root ganglia of Friedreich's ataxia patients by De Biase, Irene, Rasmussen, Astrid, Endres, Dan, Al-Mahdawi, Sahar, Monticelli, Antonella, Cocozza, Sergio, Pook, Mark, Bidichandani, Sanjay I.

“…Objective Friedreich's ataxia patients are homozygous for expanded alleles of a GAA triplet‐repeat sequence in the FXN gene. Patients develop progressive…”
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Uptake of genetic testing and long-term tumor surveillance in von Hippel-Lindau disease by Rasmussen, Astrid, Alonso, Elisa, Ochoa, Adriana, De Biase, Irene, Familiar, Itziar, Yescas, Petra, Sosa, Ana-Luisa, Rodríguez, Yaneth, Chávez, Mireya, López-López, Marisol, Bidichandani, Sanjay I

“…von Hippel-Lindau (VHL) disease is a hereditary cancer syndrome caused by germline mutations in the VHL gene. Patients have significant morbidity and mortality…”
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Methylated and unmethylated epialleles support variegated epigenetic silencing in Friedreich ataxia by Rodden, Layne N, Chutake, Yogesh K, Gilliam, Kaitlyn, Lam, Christina, Soragni, Elisabetta, Hauser, Lauren, Gilliam, Matthew, Wiley, Graham, Anderson, Michael P, Gottesfeld, Joel M, Lynch, David R, Bidichandani, Sanjay I

“…Friedreich ataxia (FRDA) is typically caused by homozygosity for an expanded GAA triplet-repeat in intron 1 of the FXN gene, which results in transcriptional…”
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Altered Nucleosome Positioning at the Transcription Start Site and Deficient Transcriptional Initiation in Friedreich Ataxia by Chutake, Yogesh K., Costello, Whitney N., Lam, Christina, Bidichandani, Sanjay I.

“…Most individuals with Friedreich ataxia (FRDA) are homozygous for an expanded GAA triplet repeat (GAA-TR) mutation in intron 1 of the FXN gene, which results…”
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Epigenetic promoter silencing in Friedreich ataxia is dependent on repeat length by Chutake, Yogesh K., Lam, Christina, Costello, Whitney N., Anderson, Michael, Bidichandani, Sanjay I.

“…Objective Friedreich ataxia (FRDA) is caused by an expanded GAA triplet‐repeat (GAA‐TR) mutation in the FXN gene. Patients are typically homozygous for…”
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Reversal of epigenetic promoter silencing in Friedreich ataxia by a class I histone deacetylase inhibitor by Chutake, Yogesh K, Lam, Christina C, Costello, Whitney N, Anderson, Michael P, Bidichandani, Sanjay I

“…Friedreich ataxia, the most prevalent inherited ataxia, is caused by an expanded GAA triplet-repeat sequence in intron 1 of the FXN gene. Repressive chromatin…”
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Expansion of GAA triplet repeats in the human genome: unique origin of the FRDA mutation at the center of an Alu by Clark, Rhonda M, Dalgliesh, Gillian L, Endres, Dan, Gomez, Mariluz, Taylor, Jim, Bidichandani, Sanjay I

“…Friedreich ataxia is caused by expansion of a GAA triplet repeat (GAA-TR) in the FRDA gene. Normal alleles contain <30 triplets, and disease-causing expansions…”
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Role of transcript and interplay between transcription and replication in triplet-repeat instability in mammalian cells by Rindler, Paul M, Bidichandani, Sanjay I

“…Triplet-repeat expansions cause several inherited human diseases. Expanded triplet-repeats are unstable in somatic cells, and tissue-specific somatic…”
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Somatic instability of the expanded GAA triplet-repeat sequence in Friedreich ataxia progresses throughout life by De Biase, Irene, Rasmussen, Astrid, Monticelli, Antonella, Al-Mahdawi, Sahar, Pook, Mark, Cocozza, Sergio, Bidichandani, Sanjay I.

“…Friedreich ataxia (FRDA) patients are homozygous for expanded GAA triplet-repeat alleles in the FXN gene. Primary neurodegeneration involving the dorsal root…”
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Analysis of unstable triplet repeats using small-pool polymerase chain reaction by Gomes-Pereira, Mário, Bidichandani, Sanjay I, Monckton, Darren G

“…Small-pool polymerase chain reaction (PCR) constitutes the PCR amplification of a trinucleotide repeat in multiple small pools of input DNA containing in the…”
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Friedreich's Ataxia: Autosomal Recessive Disease Caused by an Intronic GAA Triplet Repeat Expansion by Campuzano, Victoria, Montermini, Laura, Moltò, Maria Dolores, Pianese, Luigi, Cossée, Mireille, Cavalcanti, Francesca, Monros, Eugenia, Rodius, François, Duclos, Franck, Monticelli, Antonella, Zara, Federico, Cañizares, Joaquin, Koutnikova, Hana, Bidichandani, Sanjay I., Gellera, Cinzia, Brice, Alexis, Trouillas, Paul, De Michele, Giuseppe, Filla, Alessandro, De Frutos, Rosa, Palau, Francisco, Patel, Pragna I., Di Donato, Stefano, Mandel, Jean-Louis, Cocozza, Sergio, Koenig, Michel, Pandolfo, Massimo

“…Friedreich's ataxia (FRDA) is an autosomal recessive, degenerative disease that involves the central and peripheral nervous systems and the heart. A gene, X25,…”
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The GAA triplet-repeat is unstable in the context of the human FXN locus and displays age-dependent expansions in cerebellum and DRG in a transgenic mouse model by CLARK, Rhonda M, DE BIASE, Irene, MALYKHINA, Anna P, AL-MAHDAWI, Sahar, POOK, Mark, BIDICHANDANI, Sanjay I

“…Friedreich ataxia (FRDA) is caused by homozygosity for FXN alleles containing an expanded GAA triplet-repeat (GAA-TR) sequence. Patients have progressive…”
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Distinct distribution of autosomal dominant spinocerebellar ataxia in the Mexican population by Alonso, Elisa, Martínez-Ruano, Leticia, De Biase, Irene, Mader, Christopher, Ochoa, Adriana, Yescas, Petra, Gutiérrez, Roxana, White, Misti, Ruano, Luís, Fragoso-Benítez, Marcela, Ashizawa, Tetsuo, Bidichandani, Sanjay I., Rasmussen, Astrid

“…Dominant ataxias show wide geographic variation. We analyzed 108 dominant families and 123 sporadic ataxia patients from Mexico for mutations causing SCA1–3,…”
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Replication in mammalian cells recapitulates the locus-specific differences in somatic instability of genomic GAA triplet-repeats by Rindler, Paul M, Clark, Rhonda M, Pollard, Laura M, De Biase, Irene, Bidichandani, Sanjay I

“…Friedreich ataxia is caused by an expanded (GAA·TTC)n sequence in intron 1 of the FXN gene. Small pool PCR analysis showed that pure (GAA·TTC)₄₄₊ sequences at…”
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