Results 31 to 40 of about 5,372,923 (315)

Pervasive Sharing of Genetic Effects in Autoimmune Disease [PDF]

, 2011
Genome-wide association (GWA) studies have identified numerous, replicable, genetic associations between common single nucleotide polymorphisms (SNPs) and risk of common autoimmune and inflammatory (immune-mediated) diseases, some of which are shared ...
Klareskog, Lars, Benjamin F Voight, Worthington, Jane, Abecasis, Gonçalo R., David A van Heel, Judy Cho, Klareskog Lars, AbecasisGonç, Gonçalo R., Graham Robert R., van Heel, David A., Hansen, Kasper Lage, Graham, Robert R., Lage, Kasper, David A. van Heel, Hafler, David A., Benjamin M. Neale, Gregersen, Peter K., Gregersen, Peter, James T. Elder, Behrens Timothy, David A. Hafler, Siminovitch, Katherine A., null null, Philip L De Jager, Wijmenga, Cisca, Elizabeth Rossin, Cisca Wijmenga, David A Hafler, Chris Cotsapas, Siminovitch, KA, Kasper Lage, Mark J. Daly, Elder James T., Wallace Chris, John A. Todd, Hafler, DA, Rossin Elizabeth, Cotsapas, C, Gregersen Peter, Cotsapas, Chris, Klareskog, L, John A Todd, Behrens, Timothy, Rich Stephen S., Rich, Stephen S., Timothy Behrens, Todd, JA, Heel, David A. van, Abecasis Gonçalo R., Philip L. De Jager, Wallace, C, Neale, BM, Voight, BF, Voight, Benjamin F., Gonçalo R. Abecasis, Robert R. Graham, De Jager Philip L., Jeffrey C Barrett, Neale Benjamin M., Siminovitch Katherine A., Chris Wallace, Katherine A. Siminovitch, Benjamin M Neale, Robert R Graham, Cho, Judy, Jager, Philip L. De, Barrett Jeffrey C., Daly Mark J., Cotsapas Chris, Gonçalo R Abecasis, Rich, SS, van Heel David A., Wijmenga Cisca, Rossin, E, Graham, RR, Worthington, J, Gregersen, P, Barrett, Jeffrey C., Elder, James T., Jeffrey C. Barrett, Peter Gregersen, Katherine A Siminovitch, Lage Kasper, Wijmenga, C, Neale, Benjamin M., Wallace, Chris, Hafler David A., Behrens, T, James T Elder, Mark J Daly, Todd John A., Abecasis, GR, Elder, JT, Wijmenga, Cisca; id_orcid, Lars Klareskog, De Jager, PL, Voight Benjamin F., Benjamin F. Voight, FOCiS Network Consortia, Jane Worthington, Stephen S. Rich, Cho, J, FOCiS Network of Consortia, Cho Judy, Stephen S Rich, Barrett, JC, van Heel, DA, Todd, John A., Daly, Mark J., Daly, MJ, Worthington Jane, Rossin, Elizabeth, Lage, K, De Jager, Philip L.   +113 more
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Assessing the knowledge and awareness of the Taif community about genetic diseases

Journal of Biochemical and Clinical Genetics, 2022
Background: Diseases have a genetic basis, wherein changes in the human deoxyribonucleic acid and variances in its activities, which the environment may influence, contribute to disease processes.
Ghaliah Alnefaie, Atheer Alfuhayd, Majed Bahader, Razan Alhumyani, Abdulhameed Sarriyah, Atheer Alshanbari, Kholood Althobaiti   +6 more
doaj   +1 more source

Genetic Variants behind Cardiovascular Diseases and Dementia

, 2020
Cardiovascular diseases (CVDs) and dementia are the leading causes of disability and mortality. Genetic connections between cardiovascular risk factors and dementia have not been elucidated.
Yah-Yuan Wu, Yi-Chun Chen, Wei-Min Ho
core   +1 more source

Consanguinity, awareness, and genetic disorders among female university students in Riyadh, Saudi Arabia

Journal of Biochemical and Clinical Genetics, 2021
Background: There is a high rate of consanguinity and related genetic diseases in the general population of Saudi Arabia. Studies have been conducted to address the level of awareness about consanguineous marriages (CM); however, targeted young female ...
Hadil Alahdal, Huda Alshanbari, Hana Saud Almazroa, Sarah Majed Alayesh, Alaa Mohammad Alrhaili, Nora Alqubi, Fai Fahad Alzamil, Reem Albassam   +7 more
doaj   +1 more source

Protein Mutations and Stability, a Link with Disease: The Case Study of Frataxin

Biomedicines, 2022
Protein mutations may lead to pathologies by causing protein misfunction or propensity to degradation. For this reason, several studies have been performed over the years to determine the capability of proteins to retain their native conformation under ...
Rita Puglisi
doaj   +1 more source

A role for genetic modifiers in tubulointerstitial kidney diseases

, 2023
With the increased availability of genomic sequencing technologies, the molecular bases for kidney diseases such as nephronophthisis and mitochondrially inherited and autosomal-dominant tubulointerstitial kidney diseases (ADTKD) has become increasingly ...
Leggatt, Gary P., Gilbert, Rodney, Ennis, Sarah, Sarah Ennis, Gast, Christine, Gary P. Leggatt, Eleanor G. Seaby, Seaby, Eleanor G., Veighey, Kristin, Kristin Veighey, Rodney D. Gilbert, Christine Gast   +11 more
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Clinical and genetic characteristics of adult cerebral adrenoleukodystrophy

Shanghai Jiaotong Daxue xuebao. Yixue ban, 2023
Objective·To summarize and analyze the clinical and genetic characteristics of adult cerebral adrenoleukodystrophy(ACALD ).Methods·The data of eight patients with ACALD who attended the Shanghai Sixth People′s Hospital, Shanghai Jiao Tong University ...
LIU Taotao, LIU Xiaoli, WU Jingying, NI Ruilong, ZHANG Mengyuan, JI Duxin, ZHANG Mei, CAO Li   +7 more
doaj   +1 more source

Gene therapy for genetic diseases: challenges and future directions [PDF]

MedComm
Qie B, Tuo J, Chen F, Ding H, Lyu L.
exaly   +2 more sources

Germline CNV Detection through Whole-Exome Sequencing (WES) Data Analysis Enhances Resolution of Rare Genetic Diseases

, 2023
Whole-Exome Sequencing (WES) has proven valuable in the characterization of underlying genetic defects in most rare diseases (RDs). Copy Number Variants (CNVs) were initially thought to escape detection.
Joanne Traeger-Synodinos, Nikolaos M. Marinakis, Faidon-Nikolaos Tilemis, Maria Svingou, Periklis Makrythanasis, Konstantina Kosma, Danai Veltra, Kyriaki Kekou, Anastasios Mitrakos, Maria Tzetis, Christalena Sofocleous   +10 more
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The genetics of Parkinson's disease [PDF]

British Medical Bulletin, 2015
Parkinson's disease (PD) was previously described as the prototypical sporadic disease; however, rapid advances in population and molecular genetics have revealed the existence of a significant number genetic risk factors, prompting its redefinition as a primarily genetic disorder.Data for this review have been gathered from the published literature ...
Stephen, Mullin, Anthony, Schapira
openaire   +2 more sources