Search Results - "Bachinski, Linda L."

Population frequency of myotonic dystrophy: higher than expected frequency of myotonic dystrophy type 2 (DM2) mutation in Finland by SUOMINEN, Tiina, BACHINSKI, Linda L, AUVINEN, Satu, HACKMAN, Peter, BAGGERLY, Keith A, ANGELINI, Corrado, PELTONEN, Leena, KRAHE, Ralf, UDD, Bjarne

“…Myotonic dystrophy (DM) is the most common adult-onset muscular dystrophy with an estimated prevalence of 1/8000. There are two genetically distinct types, DM1…”
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Methylation of the candidate biomarker TCF21 is very frequent across a spectrum of early‐stage nonsmall cell lung cancers by Richards, Kristy L., Zhang, Baili, Sun, Menghong, Dong, Wenli, Churchill, Jennifer, Bachinski, Linda L., Wilson, Charmaine D., Baggerly, Keith A., Yin, Guosheng, Hayes, D. Neil, Wistuba, Ignacio I., Krahe, Ralf

“…BACKGROUND: The transcription factor TCF21 is involved in mesenchymal‐to‐epithelial differentiation and was shown to be aberrantly hypermethylated in lung and…”
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Altered MEF2 isoforms in myotonic dystrophy and other neuromuscular disorders by Bachinski, Linda L., Sirito, Mario, Böhme, Maria, Baggerly, Keith A., Udd, Bjarne, Krahe, Ralf

“…Because of their central role in muscle development and maintenance, MEF2 family members represent excellent candidate effectors of the muscle pathology in…”
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Identification of a Gene Responsible for Familial Wolff–Parkinson–White Syndrome by Gollob, Michael H, Gollob, Tanya, Green, Martin S, Tang, Anthony S.-L, Karibe, Akihiko, Hassan, Al-Sayegh, Ahmad, Ferhaan, Lozado, Ryan, Shah, Gopi, Fananapazir, Lameh, Bachinski, Linda L, Tapscott, Terry, Gonzales, Oscar, Begley, David, Mohiddin, Saidi, Roberts, Robert

“…Probable causative mutation was identified in a protein kinase gene (PRKAG2) on chromosome 7. The Wolff–Parkinson–White syndrome is the second most common…”
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Global analysis of aberrant pre-mRNA splicing in glioblastoma using exon expression arrays by Cheung, Hannah C, Baggerly, Keith A, Tsavachidis, Spiridon, Bachinski, Linda L, Neubauer, Valerie L, Nixon, Tamara J, Aldape, Kenneth D, Cote, Gilbert J, Krahe, Ralf

“…Tumor-predominant splice isoforms were identified during comparative in silico sequence analysis of EST clones, suggesting that global aberrant alternative…”
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Differences in aberrant expression and splicing of sarcomeric proteins in the myotonic dystrophies DM1 and DM2 by Vihola, Anna, Bachinski, Linda L., Sirito, Mario, Olufemi, Shodimu-Emmanuel, Hajibashi, Shohrae, Baggerly, Keith A., Raheem, Olayinka, Haapasalo, Hannu, Suominen, Tiina, Holmlund-Hampf, Jeanette, Paetau, Anders, Cardani, Rosanna, Meola, Giovanni, Kalimo, Hannu, Edström, Lars, Krahe, Ralf, Udd, Bjarne

“…Aberrant transcription and mRNA processing of multiple genes due to RNA-mediated toxic gain-of-function has been suggested to cause the complex phenotype in…”
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Effects of MDM2, MDM4 and TP53 codon 72 polymorphisms on cancer risk in a cohort study of carriers of TP53 germline mutations by Fang, Shenying, Krahe, Ralf, Lozano, Guillermina, Han, Younghun, Chen, Wei, Post, Sean M, Zhang, Baili, Wilson, Charmaine D, Bachinski, Linda L, Strong, Louise C, Amos, Christopher I

“…Previous studies have shown that MDM2 SNP309 and p53 codon 72 have modifier effects on germline P53 mutations, but those studies relied on case-only studies…”
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Desmin mutation responsible for idiopathic dilated cardiomyopathy by DUANXIANG LI, TAPSCOFT, T, GONZALEZ, O, BURCH, P. E, QUINONES, M. A, ZOGHBI, W. A, HILL, R, BACHINSKI, L. L, MANN, D. L, ROBERTS, R

“…Idiopathic dilated cardiomyopathy, of which approximately 20% of cases are familial (FDCM), is a primary myocardial disorder characterized by ventricular…”
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Mutations in the Gene for Cardiac Myosin-Binding Protein C and Late-Onset Familial Hypertrophic Cardiomyopathy by Niimura, Hideshi, Bachinski, Linda L, Sangwatanaroj, Somkiat, Watkins, Hugh, Chudley, Albert E, McKenna, William, Kristinsson, Arni, Roberts, Robert, Sole, Michael, Maron, Barry J, Seidman, Christine E, Seidman, J.G, Thierfelder, Ludwig, Jarcho, John A, Anastasakis, Aris, Toutouzas, Pavlos, Elstein, Eleanor, Liew, Choong-Chin, Liew, Jack, Mably, John, Rakowski, Harry, Wigle, E. Douglas, Zhao, Minshun, Salerni, Rosemarie, Bjornsdottir, Halldora

“…Hypertrophic cardiomyopathy, a disorder occurring in approximately 1 of every 500 people, causes a broad spectrum of pathological findings and clinical…”
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Identification of a Genetic Locus for Familial Atrial Fibrillation by Brugada, Ramon, Brugada, Josep, Tapscott, Terry, Czernuszewicz, Grazyna Z, Marian, A.J, Iglesias, Anna, Mont, Lluis, Girona, Josep, Domingo, Anna, Bachinski, Linda L, Roberts, Robert

“…Atrial fibrillation, the most common sustained cardiac-rhythm disturbance, 1 affects more than 2 million Americans, 2 with an overall prevalence of 0.89…”
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Molecular signatures of metastasis in head and neck cancer by Colella, Stefano, Richards, Kristy L., Bachinski, Linda L., Baggerly, Keith A., Tsavachidis, Spiridon, Lang, James C., Schuller, David E., Krahe, Ralf

“…Background. Metastases are the primary cause of cancer treatment failure and death, yet metastatic mechanisms remain incompletely understood. Methods. We…”
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Genetic mapping of a third Li-Fraumeni syndrome predisposition locus to human chromosome 1q23 by BACHINSKI, Linda L, OLUFEMI, Shodimu-Emmanuel, XIAOJUN ZHOU, WU, Chih-Chieh, YIP, Linwah, SHETE, Sanjay, LOZANO, Guillermina, AMOS, Christopher I, STRONG, Louise C, KRAHE, Ralf

“…Li-Fraumeni syndrome (LFS) is a clinically and genetically heterogeneous inherited cancer syndrome. Most cases ( approximately 70%) identified and…”
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Localization of a gene responsible for arrhythmogenic right ventricular dysplasia to chromosome 3p23 by AHMAD, F, DUANXIANG LI, BACHINSKI, L. L, ROBERTS, R, KARIBE, A, GONZALEZ, O, TAPSCOTT, T, HILL, R, WEILBAECHER, D, BLACKIE, P, FUREY, M, GARDNER, M

“…Arrhythmogenic right ventricular dysplasia (ARVD), a familial cardiomyopathy occurring with a prevalence of 1 in 5000, is characterized by replacement of…”
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Mutant (CCTG)n Expansion Causes Abnormal Expression of Zinc Finger Protein 9 (ZNF9) in Myotonic Dystrophy Type 2 by Raheem, Olayinka, Olufemi, Shodimu-Emmanuel, Bachinski, Linda L, Vihola, Anna, Sirito, Mario, Holmlund-Hampf, Jeanette, Haapasalo, Hannu, Li, Yi-Ping, Udd, Bjarne, Krahe, Ralf

“…The mutation that underlies myotonic dystrophy type 2 (DM2) is a (CCTG)n expansion in intron 1 of zinc finger protein 9 ( ZNF9 ). It has been suggested that…”
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Tissue Doppler imaging consistently detects myocardial abnormalities in patients with hypertrophic cardiomyopathy and provides a novel means for an early diagnosis before and independently of hypertrophy by NAGUEH, Sherif F, BACHINSKI, Linda L, MEYER, Denise, HILL, Rita, ZOGHBI, William A, TAM, James W, QUINONES, Miguel A, ROBERTS, Robert, MARIAN, A. J

“…Left ventricular hypertrophy (LVH), the clinical hallmark of familial hypertrophic cardiomyopathy (FHCM), is absent in a significant number of subjects with…”
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Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes by Müller, Juliane S., Herczegfalvi, Agnes, Vilchez, Juan J., Colomer, Jaume, Bachinski, Linda L., Mihaylova, Violeta, Santos, Manuela, Schara, Ulrike, Deschauer, Marcus, Shevell, Michael, Poulin, Chantal, Dias, Ana, Soudo, Ana, Hietala, Marja, Äärimaa, Tuula, Krahe, Ralf, Karcagi, Veronika, Huebner, Angela, Beeson, David, Abicht, Angela, Lochmüller, Hanns

“…Dok ('downstream-of-kinase') family of cytoplasmic proteins play a role in signalling downstream of receptor and non-receptor phosphotyrosine kinases…”
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Molecular Diagnosis of Myotonic Dystrophy by Chakraborty, Sujata, Vatta, Matteo, Bachinski, Linda L, Krahe, Ralf, Dlouhy, Stephen, Bai, Shaochun

“…Myotonic dystrophy types 1 (DM1) and 2 (DM2) are autosomal dominant, microsatellite repeat expansion disorders that affect muscle function. Myotonic dystrophy…”
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Localization of a gene responsible for familial dilated cardiomyopathy to chromosome 1q32 by DURAND, J.-B, BACHINSKI, L. L, BRUGADA, R, DAIGER, S, GREGORITCH, J. M, ANDERSON, J. L, QUINONES, M, TOWBIN, J. A, ROBERTS, R, BIELING, L. C, CZERNUSZEWICZ, G. Z, ABCHEE, A. B, QUN TAO YU, TAPSCOTT, T, HILL, R, IFEGWU, J, MARIAN, A. J

“…Dilated cardiomyopathy, characterized by ventricular dilatation and decreased systolic contraction, is twofold to threefold more common as a cause of heart…”
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Most expression and splicing changes in myotonic dystrophy type 1 and type 2 skeletal muscle are shared with other muscular dystrophies by Bachinski, Linda L, Baggerly, Keith A, Neubauer, Valerie L, Nixon, Tamara J, Raheem, Olayinka, Sirito, Mario, Unruh, Anna K, Zhang, Jiexin, Nagarajan, Lalitha, Timchenko, Lubov T, Bassez, Guillaume, Eymard, Bruno, Gamez, Josep, Ashizawa, Tetsuo, Mendell, Jerry R, Udd, Bjarne, Krahe, Ralf

“…Abstract The prevailing pathomechanistic paradigm for myotonic dystrophy (DM) is that aberrant expression of embryonic/fetal mRNA/protein isoforms accounts for…”
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Sex-specific effect of the TP53 PIN3 polymorphism on cancer risk in a cohort study of TP53 germline mutation carriers by Fang, Shenying, Krahe, Ralf, Bachinski, Linda L., Zhang, Baili, Amos, Christopher I., Strong, Louise C.

“…Germline mutations in the tumor suppressor gene TP53 occur in the majority of families with Li-Fraumeni syndrome, who are at an increased risk for a wide…”
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