Results 241 to 250 of about 6,725,001 (330)

Mitochondrial DNA disorders in neuromuscular diseases in diverse populations

Annals of Clinical and Translational Neurology, EarlyView.
Abstract Neuromuscular features are common in mitochondrial DNA (mtDNA) disorders. The genetic architecture of mtDNA disorders in diverse populations is poorly understood. We analysed mtDNA variants from whole‐exome sequencing data in neuromuscular patients from South Africa, Brazil, India, Turkey and Zambia. In 998 individuals, there were two definite
Fei Gao, Katherine R Schon, Jana Vandrovcova, Özlem Yayıcı Köken, Sharika Raga, Kireshnee Naidu, Maryke Schoonen, Nimita Rani, Pedro Tomaselli, Dipti Baskar, Musambo Kapapa, Ipek Polat, Lindsay A Wilson, Kumarasamy Thangaraj, Uluç Yiş, Bevinahalli N Nandeesh, David Bearden, Michelle Kvalsund, Franclo Henning, Seena Vengalil, Atchayaram Nalini, Claudia F. R. Sobreira, Wilson Marques, Haluk Topoloğlu, Michael G Hanna, Sireesha Yareeda, Venugopalan Y Vishnu, Francois H van der Westhuizen, Izelle Smuts, Surita Meldau, Jo Wilmshurst, Büşranur Çavdarlı, Jeannine Heckmann, Patrick F Chinnery, Rita Horvath   +34 more
wiley   +1 more source

Quantifying evidence for phenotypic specificity (PP4) for syndromic phenotypes: Large-scale integration of rare germlineFHvariants from diagnostic laboratory testing for HLRCC (Hereditary Leiomyomatosis and Renal Cell Cancer) and renal cancer

Allen S, Rowlands CF, Butler S, Durkie M, Horton C, Pesaran T, Richardson M, Robinson R, Garrett A, Burghel GJ, Callaway A, Field J, Frugtniet B, Palmer-Smith S, Grant J, Pagan J, McDevitt T, Snape K, Andreaou A, Maher ER, Hanson H, McVeigh T, Turnbull C, CanVIG-UK.   +23 more
europepmc   +1 more source

Ethics in editorship: lessons from a major retraction incident. [PDF]

Eur J Hum Genet
Veltman JA.
europepmc   +1 more source

Calcium modulating ligand confers risk for Parkinson's disease and impacts lysosomes

Annals of Clinical and Translational Neurology, EarlyView.
Abstract Objective Several genetic loci known to confer risk for Parkinson's disease (PD) function in lysosomal pathways. We systematically screened common variants linked to PD risk by genome‐wide association studies (GWAS) for impact on cerebrospinal fluid (CSF) proteins reflecting lysosomal function.
Hanwen Zhang, Daniel Kargilis, Thomas Tropea, John Robinson, Junchao Shen, Eliza M. Brody, Ann Brinkmalm, Simon Sjödin, Adama J. Berndt, Marc Carceles‐Cordon, EunRan Suh, Vivianna M. Van Deerlin, Kaj Blennow, Daniel Weintraub, Edward B. Lee, Henrik Zetterberg, Alice S. Chen‐Plotkin   +16 more
wiley   +1 more source

Special Issue "Molecular Genetics and Plant Breeding 3.0 and 4.0". [PDF]

Int J Mol Sci
Du H.
europepmc   +1 more source

Relationship of cognitive decline with glucocerebrosidase activity and amyloid‐beta 42 in DLB and PD

Annals of Clinical and Translational Neurology, EarlyView.
Abstract Objective Dementia with Lewy bodies (DLB) and Parkinson's disease (PD) share clinical, pathological, and genetic risk factors, including GBA1 and APOEε4 mutations. Biomarkers associated with the pathways of these mutations, such as glucocerebrosidase enzyme (GCase) activity and amyloid‐beta 42 (Aβ42) levels, may hold potential as predictive ...
Maria Camila Gonzalez, Linn Oftedal, Johannes Lange, Diego Alejandro Tovar‐Rios, Ole‐Bjørn Tysnes, Claire Paquet, Marta Marquié, Mercè Boada, Daniel Alcolea, Konrad Rejdak, Ewa Papuc, Jakub Hort, Cristian Falup‐Pecurariu, Dag Aarsland, Guido Alves, Jodi Maple‐Grødem   +15 more
wiley   +1 more source

Gendered interpretations of the causes of breast cancer: a structured review of migrant studies. [PDF]

BMC Womens Health
Scott SN, Lui ML, Houghton LC.
europepmc   +1 more source

LINC00323 variant is associated with increased risk of essential tremor

Annals of Clinical and Translational Neurology, EarlyView.
Abstract Essential tremor (ET) is a common adult movement disorder, with accumulating evidence suggesting that genetic factors primarily account for ET risk. However, replication studies on the genetic variants have yielded inconsistent results. In our case–control study, we show that the LINC00323 variant, identified in a European GWAS study, is ...
Brendan Tan, Ebonne Ng, Qiao Yang Sun, Aaron Mai, Ling‐Ling Chan, Thomas Welton, Kumar M. Prakash, Kay Yaw Tay, Wing Lok Au, Louis C.S. Tan, Eng‐King Tan, Bin Xiao   +11 more
wiley   +1 more source

Prostate Cancer: genetics in practice now and in the future. [PDF]

Hered Cancer Clin Pract
McHugh J, Bancroft E, Kote-Jarai Z, Eeles R.   +3 more
europepmc   +1 more source

Handling rescue therapy in myasthenia gravis clinical trials: why it matters and why you should care

Annals of Clinical and Translational Neurology, EarlyView.
Abstract Myasthenia gravis (MG) clinical trials typically allow rescue therapy during follow‐up in the event of marked worsening of MG symptoms. Failure to appropriately address rescue therapy in defining treatment effects and planning statistical analyses may yield biased estimates, increase false positive rates, or decrease statistical power – all of
Justin M. Leach, Inmaculada Aban, Gary Cutter, Michael Benatar   +3 more
wiley   +1 more source