Results 61 to 70 of about 28,399 (219)

The Impact of BCL11A Polymorphisms on Endometrial Cancer Risk Among Chinese Han Females

Pharmacogenomics and Personalized Medicine, 2022
Junhong Cai,1 Siyuan Peng,2 Haibo Wang,2 Shan Bao2 1Medical Laboratory Center, Hainan General Hospital/Hainan Affiliated Hospital of Hainan Medical University, Haikou, Hainan, 570311, People’s Republic of China; 2Department of Gynaecology and Obstetrics,
Cai J, Peng S, Wang H, Bao S
doaj  

Integrative Omics Analysis Reveals the Regulation of Hypoxia Tolerance in Large Yellow Croaker (Larimichthys crocea) via the Lipoic Acid Synthase (lias) Gene

Advanced Science, EarlyView.
Lipoic acid synthase (lias) can regulate α‐KG levels through lipoylation, thereby negatively regulating HIF‐1α protein levels via PHD under hypoixa. The Hap2 allele of lias exhibits lower expression levels than Hap1, leading to the accumulation of more HIF‐1α protein and thereby enhancing hypoxia tolerance. ABSTRACT Hypoxia stress seriously affects the
Jie Ding, Songpeng Jia, Ran Meng, Xuelei Wang, Xiongfei Wu, Weiliang Shen, Yibo Zhang, Junquan Zhu   +7 more
wiley   +1 more source

Dissection of the genetics of Parkinson's disease identifies an additional association 5' of SNCA and multiple associated haplotypes at 17q21. [PDF]

, 2010
We performed a genome-wide association study (GWAS) in 1705 Parkinson's disease (PD) UK patients and 5175 UK controls, the largest sample size so far for a PD GWAS.
R. A. Barker, Z. Su, Spencer, C.C.A., Pearson, Justin P., McCarthy, Mark I, Wellcome Trust Case Control Consortium 2, Sawcer, SJ, Craddock, Nicholas John, Markus, Hugh S, Viswanathan, Ananth C., L. Peltonen, Potter, S, Rautanen, A, Gray, E, Hardy, J., Donnelly, P., Casas, J.-P., V. Plagnol, Deloukas, P, CORVIN, AIDEN PETER, Langford, C., Sawcer, Stephen J, Peltonen, L, Jankowski, J., Palmer, Colin N. A., E. Bramon, Edkins, Sarah, M. I. McCarthy, Peltonen, L., null null, G. Band, Craddock, Nicholas, Hudson, Gavin, Gray, E., Palmer, CN, Morrison, KE, Su, Zhan, Evans, Jonathan, Corvin, A, Viswanathan, A.C., A. C. Viswanathan, Morrison, Karen, Mathew, Christopher G.; id_orcid, Palmer, Colin NA, Spencer, C. C., Donnelly, P, Evans, J, Morrison, K.E.; id_orcid, Hunt, S., Palmer, C.N.A., Wood, Nicholas W., Craddock, N, Brown, Martin A., Hunt, S, H. Blackburn, A. Strange, D. Burn, J. Evans, Corvin, A., P. Donnelly, Gardner, M, Chinnery, Patrick F., Palmer, C. N., Burn, D, A. J. Lees, Bramon, E, Potter, Simon, Pirinen, Matti, Trembath, Richard C, Plagnol, V., Hardy, John, McCarthy, M. I., J. P. Pearson, Morris, H. R., C. Freeman, Edkins, S., Clarke, Carl E, Blackburn, Hannah, Morris, H.R., Clarke, Carl; id_orcid, Plagnol, V, Trembath, RC, Bhatia, Kailash, Langford, C, Gardner, M., S. Edkins, Viswanathan, A. C., Peltonen, Leena, Burn, D., R. C. Trembath, Sawcer, Stephen J., K. Bhatia, C. Langford, McCarthy, MI, Spencer, Chris CA, Spencer, Chris, Strange, Amy, C. C. A. Spencer, Bellenguez, C., J. Jankowski, Freeman, C., Brown, M. A., Spencer, Chris C.A., Bhatia, K., Langford, Cordelia, Wood, NW, Barker, R. A., Freeman, Colin, Chinnery, PF, Hunt, Sarah, Clarke, Carl E., C. E. Clarke, Markus, HS, Lees, A. J., Spencer, Chris C. A., P. F. Chinnery, Gray, Emma, Chinnery, P. F., Morris, Huw R., H. R. Morris, Paisan-Ruiz, C., Clarke, C.E., McCarthy, Mark I., Brown, MA, Blackburn, H., Wood, N.W., Clarke, CE, Gardner, Michelle, Plagnol, Vincent, S. Potter, A. Rautanen, Wood, N. W., Pearson, JP, Hardy, J, Evans, J., Morrison, K. E., Morrison, Karen E., Mathew, CG, Donnelly, Peter, C. Paisan-Ruiz, Chinnery, P.F., Pirinen, M., Lees, A.J., A. Corvin, Mathew, Christopher G, Su, Z., Edkins, S, Craddock, N., Brown, Martin A, Morris, Huw Rees, Trembath, Richard C., Wood, Nicholas W, Pirinen, M, Viswanathan, Ananth C, Clarke, C. E., Burn, David, Barker, Roger A, Strange, A., Blackwell, JM, Casas, J. P., C. G. Mathew, Williams, Nigel W, Paisan-Ruiz, C, Lees, AJ, P. Deloukas, N. W. Williams, C. Bellenguez, UK Parkinson's Disease Consortium, Deloukas, P., Mathew, C. G., G. Hudson, Su, Z, Plomin, R., Spencer, Chris C A, N. W. Wood, Plomin, R, S. Hunt, Morris, Huw R, Casas, Juan-Pablo, Barker, Roger A., Barker, Roger, Brown, Matthew A, Casas, JP, Barker, R.A., Rautanen, Anna, Bramon, Elvira, Plomin, Robert, Jankowski, Janusz, Band, G., McCarthy, M.I., Freeman, C, M. A. Brown, Bhatia, K, Brown, M. A, Sawcer, S.J., J. M. Blackwell, H. S. Markus, M. Gardner, Lees, Andrew J, Morris, HR, Band, Gavin, Strange, A, Brown, Matthew A., Markus, H.S., Blackburn, H, Paisan-Ruiz, Coro, Rautanen, A., Williams, Nigel W., Williams, N.W., Pearson, Justin P, C. N. A. Palmer, Blackwell, J. M., Deloukas, Panos, Bellenguez, Celine, Williams, N. W., Morrison, K.E., S. J. Sawcer, Brown, M.A., Bramon, E., Trembath, R. C., Barker, RA, Spencer, CC, Blackwell, Jennie M, Chinnery, Patrick F, Blackwell, Jennie M., Hudson, G, Spencer, C. C. A., Markus, Hugh S., N. Craddock, Morrison, Karen E, Lees, Andrew J., Band, G, Palmer, Colin N A; id_orcid, Jankowski, J, Blackwell, J.M., K. E. Morrison, Hudson, G., E. Gray, Viswanathan, AC, Potter, S., Palmer, C. N. A., Mathew, C.G., Williams, NW, J.-P. Casas, Bellenguez, C, J. Hardy, Williams, Nigel Melville, Pearson, J.P., R. Plomin, Pearson, J. P., Corvin, Aiden, Sawcer, S. J., M. Pirinen, Trembath, R.C., Markus, H. S.   +254 more
core   +1 more source

Biallelic Germline Inactivation of HROB Causes Primary Gonadal Insufficiency and is Potentially Associated with Colonic Polyposis Predisposition

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The Homologous Recombination Factor With OB‐Fold (HROB) plays a role in homologous recombination and DNA replication, where it enhances the MCM8‐MCM9 helicase complex activity. Recent findings link biallelic germline HROB variants to primary gonadal insufficiency (hypergonadotropic hypogonadism), a phenotype also associated with MCM8/MCM9 ...
Noah C. Helderman, Carli M. Tops, Jelmer Legebeke, Ting Yang, Marcos Díaz Gay, Diantha Terlouw, Lisa E. E. L. O. Lashley, Stefan Aretz, Anna K. Sommer, Mariona Terradas, Laura Valle, Richarda M. de Voer, Ludmil B. Alexandrov, Hans Morreau, Tom van Wezel, Maartje Nielsen   +15 more
wiley   +1 more source

Genome-Wide Identification and Characterization of Alternative Oxidase (AOX) Genes in Foxtail Millet (Setaria italica): Insights into Their Abiotic Stress Response

Plants
Alternative oxidase (AOX) serves as a critical terminal oxidase within the plant respiratory pathway, playing a significant role in cellular responses to various stresses.
Hui Zhang, Yidan Luo, Yujing Wang, Juan Zhao, Yueyue Wang, Yajun Li, Yihao Pu, Xingchun Wang, Xuemei Ren, Bo Zhao   +9 more
doaj   +1 more source

Combinatorial Conflicting Homozygosity (CCH) analysis enables the rapid identification of shared genomic regions in the presence of multiple phenocopies.

, 2015
The ability to identify regions of the genome inherited with a dominant trait in one or more families has become increasingly valuable with the wide availability of high throughput sequencing technology.
Neild, GH, Connor, TM, Levine, AP, Maxwell, PH, Gale, DP, Oygar, DD, Segal, AW   +6 more
core   +1 more source

A comparison of gene region simulation methods [PDF]

, 2012
Background: Accurately modeling LD in simulations is essential to correctly evaluate new and existing association methods. At present, there has been minimal research comparing the quality of existing gene region simulation methods to produce LD ...
Logue, M.W., Dupuis, J., Hendricks, A.E., Lunetta, K.L., Gupta, M.   +4 more
core   +1 more source

De Novo Complex Genomic Rearrangement Spanning 2q31.1 in a Proband With Congenital Malformations: Genotype–Phenotype Correlation and Development of a CGR Detection Pipeline

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The 2q31 region is commonly associated with pathogenic alleles of the HOXD cluster leading to various clinical phenotypes related to skeletal development. We present a proband with tetralogy of Fallot and multiple congenital anomalies. Genomic variant screening including an in‐house CGR detection pipeline pairing genome sequencing (GS ...
Katherine Helle, Jesse D. Bengtsson, Mira Gandhi, Christopher M. Grochowski, Ming Yin Lun, Neha Sudhir, Shalini N. Jhangiani, Fritz J. Sedlazeck, Seema R. Lalani, Neil A. Hanchard, Claudia M. B. Carvalho   +10 more
wiley   +1 more source

A New Genetic Marker for Febrile Seizures

Pediatric Neurology Briefs, 1999
Linkage analysis genetic studies were conducted in a four-generation Utah family with 21 members affected by febrile seizures inherited as an autosomal dominant trait, and results are reported from the University of Utah, Salt Lake City, UT.
J Gordon Millichap
doaj   +1 more source

Melatonin Levels in 89 Individuals With Smith Magenis Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT In patients with Smith–Magenis syndrome (SMS), an inverted circadian rhythm of melatonin (MT) contributes to the sleep disturbance. Standard treatment of sleep disturbance with MT often leads to extremely high daytime MT levels, resulting in even more sleep disorders. We therefore retrospectively evaluated the MT data of 89 SMS patients.
Wiebe Braam, Ann C. M. Smith
wiley   +1 more source