Results 211 to 220 of about 11,509,666 (312)

Human genome dispute [PDF]

Nature, 1991
openaire   +2 more sources

Associations between the Plasmodium falciparum genome and sickle haemoglobin identified in mild malaria cases from Ghana. [PDF]

Malar J
Hamilton WL, Forster AJ, Aniweh Y, Asoala V, Drury E, Rockett KA, Awandare GA, Kwiatkowski DP, Band G, Amenga-Etego LN.   +9 more
europepmc   +1 more source

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source

Genome-wide association study of cocaine self-administration behavior in Heterogeneous Stock rats. [PDF]

Nat Commun
Lara MK, Carrette LLG, Sanches TM, Polesskaya O, Avelar A, Beeson A, Beldjoud H, Boomhower B, Brennan M, Chen D, Cheng R, China L, Chitre AS, Conlisk DE, Fannon M, Johnson BB, Keung E, Kimbrough A, Kononoff J, Martinez AR, Maturin L, Nguyen KM, Morgan A, Mosquera J, Othman D, Plasil SL, Ramborger J, Schweitzer P, Sedighim S, Seshie O, Shankar K, Sichel B, Simpson S, Smith LC, Sneddon EA, Tieu L, Velarde N, Zahedi S, Woods LCS, Kallupi M, de Guglielmo G, Palmer AA, George O.   +42 more
europepmc   +1 more source

Sertraline Treatment Can Mimic Niemann‐Pick Type C Biomarker Profile: A Diagnostic Pitfall

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Oxysterols (cholestane‐3β,5α,6β‐triol and 7‐ketocholesterol) and N‐palmitoyl‐O‐phosphocholineserine (PPCS) are sensitive biomarkers for Niemann‐Pick disease type C (NPC) screening. However, false‐positive results occur, with a biomarker profile suggestive of NPC despite the absence of pathogenic variants in genes involved in NPC or ...
Maria Makrygianni, Cecile Pagan, Antony Citterio‐Quentin, Isabelle Rouvet, Giulia Dingeo, Cyril Hanin, Claudine Laurent‐Levinson, Samia Pichard, Bénédicte Héron, Clément Gourguechon, Daniele Mandia, Jerome Guitton, Carole Lacout, Nicolas Schleinitz, Florient Potier, Olivier Flabeau, Elsa Besse‐Pinot, Foudil Lamari, Magali Pettazzoni, Yann Nadjar   +19 more
wiley   +1 more source

Integrated flexible DNA methylation-chromatin segmentation modeling enhances epigenomic state annotation. [PDF]

Nucleic Acids Res
Aggarwal N, Schmitz JE, Laufer L, Rahmann S, Walter J, Salhab A.   +5 more
europepmc   +1 more source

Comprehensive Characterization of 98 Chinese Cases of Genetic Creutzfeldt‐Jakob Disease With T188K Mutation

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To characterize the demographic, clinical, and laboratory features of the Chinese patients of genetic Creutzfeldt‐Jakob disease with T188K variant (T188K‐gCJD), the most common subtype of genetic prion diseases (gPrDs) in China. Methods In this nationwide retrospective study, data from 98 genetically confirmed T188K‐gCJD patients ...
Chun‐Jie Li, Dong‐Lin Liang, Li‐Ping Gao, Wei‐Wei Zhang, Wei Zhou, A. Ruhan, Bing Xu, Run‐Dong Cao, Kang Xiao, Cao Chen, Qi Shi, Xiao‐Ping Dong   +11 more
wiley   +1 more source

Identification of Novel Recombinant Human Adenovirus Genotype B117 from Pediatric Cases, China. [PDF]

Emerg Infect Dis
Wang J, Jing L, Duan Y, Guan X, Cui Y, Ai J, Wang R, Chen X, Bi Y, Liu X, Xu B, Zhu Y, Xie Z.   +12 more
europepmc   +1 more source

Prominent Movement Disorders in RNU2‐2‐Related Spliceosomopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Pediatric movement disorders often overlap with neurodevelopmental diseases, suggesting shared molecular mechanisms. Variants in small nuclear RNA (snRNA) genes encoding spliceosome components have recently been associated with neurodevelopmental disorders, termed “RNUopathies.” We analyzed genome sequencing data from 14 patients with ...
Magdalena Krygier, Ugo Sorrentino, Matias Wagner, Marta Zawadzka, Anna Lemska, Maria Mazurkiewicz‐Bełdzińska, Michael Zech   +6 more
wiley   +1 more source

Beyond livestock: the genomic evolution and expansion of MRSA CC398 as a healthcare- and community-associated pathogen (2017-2024). [PDF]

Microb Genom
Tkadlec J, Rozsypalkova A, Polivkova S, Drevinek P, Gooskens J, Krutova M.   +5 more
europepmc   +1 more source