Results 31 to 40 of about 28,399 (219)

Incorporating single-locus tests into haplotype cladistic analysis in case-control studies. [PDF]

PLoS Genetics, 2007
In case-control studies, genetic associations for complex diseases may be probed either with single-locus tests or with haplotype-based tests. Although there are different views on the relative merits and preferences of the two test strategies, haplotype-
Jianfeng Liu, Chris Papasian, Hong-Wen Deng   +2 more
doaj   +1 more source

Do genetic predictors of pain sensitivity associate with persistent widespread pain? [PDF]

, 2009
Genetic risk factors for pain sensitivity may also play a role in susceptibility to chronic pain disorders, in which subjects have low pain thresholds.
Nicholl Barbara I, McBeth John, Davies, K.A., Macfarlane, Gary J., John McBeth, Holliday, K.L., Kate L Holliday, Nicholl, Barbara I., Thomson, W., Macfarlane, G.J., Thomson Wendy, Nicholl, B.I, Davies Kelly A, McBeth, J., Holliday, Kate L., McBeth, John, Wendy Thomson, Kelly A Davies, Macfarlane Gary J, Holliday Kate L, Thomson, Wendy, Gary J Macfarlane, Barbara I Nicholl, Davies, Kelly A.   +23 more
core   +1 more source

A Prospective Study of Individuals at Risk of Multiple Sclerosis Informs the Design of Primary Prevention Studies

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective In multiple sclerosis, the optimal time for deploying a therapeutic intervention is before the central nervous system is damaged; given the success of trials treating the earliest stage of MS, the radiologically isolated syndrome, developing primary prevention strategies is an important next challenge.
Amy W. Laitinen, Ceren Tozlu, Tina Roostaei, Fatoumata Diallo, Kaho Onomichi, Jiyeon Son, Zongqi Xia, Philip L. De Jager   +7 more
wiley   +1 more source

Genetic predisposition to porto‐sinusoidal vascular disorder: A functional genomic‐based, multigenerational family study

Hepatology, EarlyView., 2022
A deleterious variant of FCHSD1 results in mTOR pathway overactivation and may cause porto‐sinusoidal vascular disorder (PSVD). The pedigree of the family demonstrated an autosomal dominant disease with variable expressivity. Whole‐genome sequencing and Sanger sequencing both validated the existence of the FCHSD1 variant and the heterozygosity of c ...
Jingxuan Shan, André Megarbane, Aziz Chouchane, Deepak Karthik, Ramzi Temanni, Atilio Reyes Romero, Huiying Hua, Chun Pan, Xixi Chen, Murugan Subramanian, Chadi Saad, Hamdi Mbarek, Cybel Mehawej, Eliane Chouery, Sirin W. Abuaqel, Alexander Dömling, Sami Remadi, Cesar Yaghi, Pu Li, Lotfi Chouchane   +19 more
wiley   +1 more source

Genetic analysis of completely sequenced disease-associated MHC haplotypes identifies shuffling of segments in recent human history

, 2006
The major histocompatibility complex (MHC) is recognised as one of the most important genetic regions in relation to common human disease. Advancement in identification of MHC genes that confer susceptibility to disease requires greater knowledge of ...
John Trowsdale, Wilming, LG, Roberts Anne N, Coggill, P, Laurens G Wilming, Sarah Sims, Trowsdale, J, Atrazhev Alexey M, Palmer, S, Beck Stephan, Todd John A, Jane Rogers, Sawcer, S, Coggill Penny, Ashurst Jennifer L, Trowsdale John, Almeida Jeff, Alexey M Atrazhev, Elliott John F, Beck, S, Sophie Palmer, Hurles Matthew E, Traherne James A, Roberts, AN, Miretti, M, Stewart, CA, de Jong, PJ, Pieter J de Jong, Stephen Sawcer, Hurles, ME, James A Traherne, C Andrew Stewart, de Jong Pieter J., Matthew E Hurles, Horton, R, Penny Coggill, Jennifer L Ashurst, Sims, S, Horton Roger, Stewart C. Andrew, Almeida, J, Ashurst, JL, Carrington Mary, Elliott, JF, C. Andrew Stewart, Stephan Beck, Rogers Jane, Palmer Sophie, Pieter J. de Jong, Carrington, M, Rogers, J, Atrazhev, AM, Roger Horton, Sawcer Stephen, Traherne, JA, Jeff Almeida, Sims Sarah, John A Todd, Marcos M Miretti, Anne N Roberts, Wilming Laurens G, Todd, JA, Mary Carrington, Miretti Marcos M, John F Elliott   +64 more
core   +1 more source

SPG4 and Dementia: Expanding the Clinical Spectrum

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza, Arun Meyyazhagan, Eliseo Picchi, Gustavo Ribas, Ingrid Faber, Ryosuke Miyamoto, Preethi Basavaraju, Paolo Eusebi, Haripriya Kuchi Bhotla, Mario Stasi, Fabrizio Gaudiello, Francesco Patti, Filippo Maria Santorelli, Marcondes Cavalcante França Jr, José Luiz Pedroso, Orlando Graziani Povoas Barsottini, Hélio Afonso Ghizoni Teive, Peter Henry St George‐Hyslop, Toshitaka Kawarai, Antonio Orlacchio   +19 more
wiley   +1 more source

Multiple Small-Effect Alleles of Indica Origin Enhance High Iron-Associated Stress Tolerance in Rice Under Field Conditions in West Africa

Frontiers in Plant Science, 2021
Understanding the genetics of field-based tolerance to high iron-associated (HIA) stress in rice can accelerate the development of new varieties with enhanced yield performance in West African lowland ecosystems.
Giovanni Melandri, Mouritala Sikirou, Mouritala Sikirou, Juan D. Arbelaez, Afeez Shittu, Vimal K. Semwal, Kadougoudiou A. Konaté, Alhassan T. Maji, Steven A. Ngaujah, Inoussa Akintayo, Inoussa Akintayo, Vishnu Govindaraj, Yuxin Shi, Francisco J. Agosto-Peréz, Anthony J. Greenberg, Gary Atlin, Venuprasad Ramaiah, Susan R. McCouch   +17 more
doaj   +1 more source

Screening tests for Disease Risk Haplotype Segments in Genome by Use of Permutation [PDF]

, 2015
The haplotype association analysis has been proposed to capture the collective behavior of sets of variants by testing the association of each set instead of individual variants with the disease.
Ali, Fadhaa, Zhang, Jian
core  

Immune Checkpoint Inhibitor–Related Myositis and Associated Triad Overlap Syndrome

Arthritis Care &Research, EarlyView.
Objective Immune checkpoint inhibitor (ICI) myositis is a rare but a highly morbid condition, particularly with the ICI myositis triad syndrome of myositis, myocarditis, and myasthenia gravis. We report the clinical characteristics of ICI myositis and all‐cause mortality in these patients.
Selene Rubino, Grant W. Cannon, Brian C. Sauer, Jorge Rojas, Gregory J. Stoddard, Gary A. Kunkel, Jessica A. Walsh, Bryant R. England, Joshua F. Baker, Tawnie J. Braaten   +9 more
wiley   +1 more source

Combined Genome-Wide Association Study and Haplotype Analysis Identifies Candidate Genes Affecting Growth Traits of Inner Mongolian Cashmere Goats

Veterinary Sciences
In this study, genome-wide association analysis was performed on the growth traits (body height, body length, chest circumference, chest depth, chest width, tube circumference, and body weight) of Inner Mongolian cashmere goats (Erlangshan type) based on
Xiaofang Ao, Youjun Rong, Mingxuan Han, Xinle Wang, Qincheng Xia, Fangzheng Shang, Yan Liu, Qi Lv, Zhiying Wang, Rui Su, Yanjun Zhang, Ruijun Wang   +11 more
doaj   +1 more source