Výsledky vyhľadávania - "Inheritance Patterns"

Pedigree analysis of lumbar developmental spinal stenosis: Determination of potential inheritance patterns Autor Lai, Marcus K. L., Cheung, Prudence W. H., Song, You‐Qiang, Samartzis, Dino, Cheung, Jason P. Y.

“… to neural compromise. The objective of this study is to identify any inheritance pattern of DSS by utilizing pedigree charts…”
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Clinical profile, atrophy and inheritance patterns of pathogenic MAPT gene mutations in Frontotemporal dementia detected using whole exome sequencing: a single-center first report from India Autor Ramakrishnan, Subasree, Arshad, Faheem, Keerthana, B. S., Bosco, Susan, Gokul Pon, Arun, Ganaraja, V. H., Madhusudhan, Deekshitha, Mahima, R., Arunachal, Gautham, Kulanthaivelu, Karthick, Alladi, Suvarna

“… mutations from an Indian cohort of Frontotemporal dementia, using whole-exome sequencing (WES) for the first time. Methods Subjects with dementia fulfilling the criteria…”
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AB0013 HLA ASSOCIATION WITH SYSTEMIC SCLEROSIS (SSc) IN NORTH INDIAN POPULATION AND FAMILIAL INHERITANCE PATTERNS Autor Machhua, S., Minz, R., Sharma, S. K., Singh, H., Kumar, Y., Anand, S., Handa, S., Singh, S.

“…Background:It is widely believed that SSc develops in an individual with a permissive genetic makeup.Genetic influences have long been suspected to impact SSc…”
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Meta-analysis of telomere length in 19 713 subjects reveals high heritability, stronger maternal inheritance and a paternal age effect Autor Broer, Linda, Codd, Veryan, Nyholt, Dale R, Deelen, Joris, Mangino, Massimo, Willemsen, Gonneke, Albrecht, Eva, Amin, Najaf, Beekman, Marian, de Geus, Eco J C, Henders, Anjali, Nelson, Christopher P, Steves, Claire J, Wright, Margie J, de Craen, Anton J M, Isaacs, Aaron, Matthews, Mary, Moayyeri, Alireza, Montgomery, Grant W, Oostra, Ben A, Vink, Jacqueline M, Spector, Tim D, Slagboom, P Eline, Martin, Nicholas G, Samani, Nilesh J, van Duijn, Cornelia M, Boomsma, Dorret I

“…Telomere length (TL) has been associated with aging and mortality, but individual differences are also influenced by genetic factors, with previous studies…”
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Neonatal DNA methylation profile in human twins is specified by a complex interplay between intrauterine environmental and genetic factors, subject to tissue-specific influence Autor Gordon, Lavinia, Joo, Jihoon E, Powell, Joseph E, Ollikainen, Miina, Novakovic, Boris, Li, Xin, Andronikos, Roberta, Cruickshank, Mark N, Conneely, Karen N, Smith, Alicia K, Alisch, Reid S, Morley, Ruth, Visscher, Peter M, Craig, Jeffrey M, Saffery, Richard

“…Comparison between groups of monozygotic (MZ) and dizygotic (DZ) twins enables an estimation of the relative contribution of genetic and shared and nonshared…”
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Transgenerational inheritance of acquired epigenetic signatures at CpG islands in mice Autor Takahashi, Yuta, Morales Valencia, Mariana, Yu, Yang, Ouchi, Yasuo, Takahashi, Kazuki, Shokhirev, Maxim Nikolaievich, Lande, Kathryn, Williams, April E, Fresia, Chiara, Kurita, Masakazu, Hishida, Tomoaki, Shojima, Kensaku, Hatanaka, Fumiyuki, Nuñez-Delicado, Estrella, Esteban, Concepcion Rodriguez, Izpisua Belmonte, Juan Carlos

“…Transgenerational epigenetic inheritance in mammals remains a debated subject. Here, we demonstrate that DNA methylation of promoter-associated CpG islands (CGIs…”
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Multiple sclerosis genomic map implicates peripheral immune cells and microglia in susceptibility

“…We analyzed genetic data of 47,429 multiple sclerosis (MS) and 68,374 control subjects and established a reference map of the genetic architecture of MS…”
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A new highly penetrant form of obesity due to deletions on chromosome 16p11.2 Autor Walters, R. G., Jacquemont, S., Valsesia, A., de Smith, A. J., Martinet, D., Andersson, J., Falchi, M., Chen, F., Andrieux, J., Lobbens, S., Delobel, B., Stutzmann, F., El-Sayed Moustafa, J. S., Chèvre, J.-C., Lecoeur, C., Vatin, V., Bouquillon, S., Buxton, J. L., Boute, O., Holder-Espinasse, M., Cuisset, J.-M., Lemaitre, M.-P., Ambresin, A.-E., Brioschi, A., Gaillard, M., Giusti, V., Fellmann, F., Ferrarini, A., Hadjikhani, N., Campion, D., Guilmatre, A., Goldenberg, A., Calmels, N., Mandel, J.-L., Le Caignec, C., David, A., Isidor, B., Cordier, M.-P., Dupuis-Girod, S., Labalme, A., Sanlaville, D., Béri-Dexheimer, M., Jonveaux, P., Leheup, B., Õunap, K., Bochukova, E. G., Henning, E., Keogh, J., Ellis, R. J., MacDermot, K. D., van Haelst, M. M., Vincent-Delorme, C., Plessis, G., Touraine, R., Philippe, A., Malan, V., Mathieu-Dramard, M., Chiesa, J., Blaumeiser, B., Kooy, R. F., Caiazzo, R., Pigeyre, M., Balkau, B., Sladek, R., Bergmann, S., Mooser, V., Waterworth, D., Reymond, A., Vollenweider, P., Waeber, G., Kurg, A., Palta, P., Esko, T., Metspalu, A., Nelis, M., Elliott, P., Hartikainen, A.-L., McCarthy, M. I., Peltonen, L., Carlsson, L., Jacobson, P., Sjöström, L., Huang, N., Hurles, M. E., O’Rahilly, S., Farooqi, I. S., Männik, K., Jarvelin, M.-R., Pattou, F., Meyre, D., Walley, A. J., Coin, L. J. M., Blakemore, A. I. F., Froguel, P., Beckmann, J. S.

“…Genetic link to obesity Obesity is a highly heritable disorder but the genetic associations reported to date account for only a small percentage of the…”
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Genetic and environmental influences interact with age and sex in shaping the human methylome Autor van Dongen, Jenny, Nivard, Michel G., Willemsen, Gonneke, Hottenga, Jouke-Jan, Helmer, Quinta, Dolan, Conor V., Ehli, Erik A., Davies, Gareth E., van Iterson, Maarten, Breeze, Charles E., Beck, Stephan, Suchiman, H. Eka, Jansen, Rick, van Meurs, Joyce B., Heijmans, Bastiaan T., Slagboom, P. Eline, Boomsma, Dorret I.

“…The methylome is subject to genetic and environmental effects. Their impact may depend on sex and age, resulting in sex- and age-related physiological variation and disease susceptibility…”
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Heritability and genomics of gene expression in peripheral blood Autor Wright, Fred A, Sullivan, Patrick F, Brooks, Andrew I, Zou, Fei, Sun, Wei, Xia, Kai, Madar, Vered, Jansen, Rick, Chung, Wonil, Zhou, Yi-Hui, Abdellaoui, Abdel, Batista, Sandra, Butler, Casey, Chen, Guanhua, Chen, Ting-Huei, D'Ambrosio, David, Gallins, Paul, Ha, Min Jin, Hottenga, Jouke Jan, Huang, Shunping, Kattenberg, Mathijs, Kochar, Jaspreet, Middeldorp, Christel M, Qu, Ani, Shabalin, Andrey, Tischfield, Jay, Todd, Laura, Tzeng, Jung-Ying, van Grootheest, Gerard, Vink, Jacqueline M, Wang, Qi, Wang, Wei, Wang, Weibo, Willemsen, Gonneke, Smit, Johannes H, de Geus, Eco J, Yin, Zhaoyu, Penninx, Brenda W J H, Boomsma, Dorret I

“…Fred Wright, Patrick Sullivan and colleagues present the results of a large expression QTL study of peripheral blood using a classic twin design with follow-up…”
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Mitochondrial DNA as a marker of molecular diversity: a reappraisal Autor Galtier, N, Nabholz, B, Glemin, S, Hurst, G.D.D

“… Reviewing recent literature on the subject, we argue that mitochondrial DNA is not always clonal, far from neutrally evolving and certainly not clock-like, questioning its relevance as a witness…”
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Transposons, environmental changes, and heritable induced phenotypic variability Autor Piacentini, Lucia, Fanti, Laura, Specchia, Valeria, Bozzetti, Maria Pia, Berloco, Maria, Palumbo, Gino, Pimpinelli, Sergio

“…The mechanisms of biological evolution have always been, and still are, the subject of intense debate and modeling…”
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MT‐ATP6 mitochondrial disease variants: Phenotypic and biochemical features analysis in 218 published cases and cohort of 14 new cases Autor Ganetzky, Rebecca D., Stendel, Claudia, McCormick, Elizabeth M., Zolkipli‐Cunningham, Zarazuela, Goldstein, Amy C., Klopstock, Thomas, Falk, Marni J.

“…Mitochondrial complex V (CV) generates cellular energy as adenosine triphosphate (ATP). Mitochondrial disease caused by the m.8993T>G pathogenic variant in the…”
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Genome-wide analysis of copy number variants in attention deficit hyperactivity disorder: the role of rare variants and duplications at 15q13.3 Autor Williams, Nigel M, Franke, Barbara, Mick, Eric, Anney, Richard J L, Freitag, Christine M, Gill, Michael, Thapar, Anita, O'Donovan, Michael C, Owen, Michael J, Holmans, Peter, Kent, Lindsey, Middleton, Frank, Zhang-James, Yanli, Liu, Lu, Meyer, Jobst, Nguyen, Thuy Trang, Romanos, Jasmin, Romanos, Marcel, Seitz, Christiane, Renner, Tobias J, Walitza, Susanne, Warnke, Andreas, Palmason, Haukur, Buitelaar, Jan, Rommelse, Nanda, Vasquez, Alejandro Arias, Hawi, Ziarih, Langley, Kate, Sergeant, Joseph, Steinhausen, Hans-Christoph, Roeyers, Herbert, Biederman, Joseph, Zaharieva, Irina, Hakonarson, Hakon, Elia, Josephine, Lionel, Anath C, Crosbie, Jennifer, Marshall, Christian R, Schachar, Russell, Scherer, Stephen W, Todorov, Alexandre, Smalley, Susan L, Loo, Sandra, Nelson, Stanley, Shtir, Corina, Asherson, Philip, Reif, Andreas, Lesch, Klaus-Peter, Faraone, Stephen V

“…) and comparison subjects (N=2,455) from the IMAGE II Consortium. The authors observed 1,562 individually rare CNVs…”
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Heritability estimates of muscle strength‐related phenotypes: A systematic review and meta‐analysis Autor Zempo, H., Miyamoto‐Mikami, E., Kikuchi, N., Fuku, N., Miyachi, M., Murakami, H.

“…‐msp for healthy subjects in a sedentary state were included. Random‐effects models were used to calculate the weighted mean heritability estimates…”
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Investigating the contribution of common genetic variants to the risk and pathogenesis of ADHD Autor Stergiakouli, Evangelia, Hamshere, Marian, Holmans, Peter, Langley, Kate, Zaharieva, Irina, Hawi, Ziarah, Kent, Lindsey, Gill, Michael, Williams, Nigel, Owen, Michael J, O'Donovan, Michael, Thapar, Anita

“… The authors analyzed genome-wide SNP frequencies in 727 children with ADHD and 5,081 comparison subjects…”
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Cytoplasmic inheritance: The transmission of plastid and mitochondrial genomes across cells and generations Autor Chung, Kin Pan

“…: plastids and mitochondria. While both the nuclear and cytoplasmic genomes are essential for survival, the inheritance of these genomes is subject to distinct laws…”
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Family History in Periodic Fever, Aphthous Stomatitis, Pharyngitis, Adenitis (PFAPA) Syndrome Autor Manthiram, Kalpana, Nesbitt, Emily, Morgan, Thomas, Edwards, Kathryn M

“…The goal of this study was to describe family history and inheritance patterns in patients with periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis (PFAPA) syndrome…”
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Individual variation in cognitive performance: developmental and evolutionary perspectives Autor Thornton, Alex, Lukas, Dieter

“… Studies often focus on a subset of high-performing subjects, sometimes viewing evidence from a single individual as sufficient to demonstrate the cognitive capacity of a species…”
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Outcomes of hematopoietic cell transplantation using donors or recipients with inherited chromosomally integrated HHV-6 Autor Hill, Joshua A, Magaret, Amalia S, Hall-Sedlak, Ruth, Mikhaylova, Anna, Huang, Meei-Li, Sandmaier, Brenda M, Hansen, John A, Jerome, Keith R, Zerr, Danielle M, Boeckh, Michael

“…) recipients is unclear. We identified 4319 HCT donor-recipient pairs (8638 subjects) who received an allogeneic HCT and had archived pre-HCT peripheral blood mononuclear cell samples…”
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