Results 271 to 280 of about 1,880,451 (340)

Genome-sequencing anniversary. Genome literacy.

Science (New York, N.Y.), 2011
openaire   +2 more sources

Diagnostic Utility of the ATG9A Ratio in AP‐4–Associated Hereditary Spastic Paraplegia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Adaptor protein complex 4–associated hereditary spastic paraplegia (AP‐4‐HSP), a childhood‐onset neurogenetic disorder and frequent mimic of cerebral palsy, is caused by biallelic variants in the adaptor protein complex 4 (AP‐4) subunit genes (AP4B1 [for SPG47], AP4M1 [for SPG50], AP4E1 [for SPG51], and AP4S1 [for SPG52]).
Habibah A. P. Agianda, Hyo‐Min Kim, Nicole Battaglia, Joshua Rong, Amy Tam, Enrique Gonzalez Saez‐Diez, Cornelius F. Boerkoel, Afshin Saffari, Vicente Quiroz, Luca Schierbaum, Zainab Zaman, Katerina Bernardi, Darius Ebrahimi‐Fakhari   +12 more
wiley   +1 more source

Whole genome sequence of Staphylococcus aureus strain 37 M isolated from cows with subclinical mastitis in Uganda. [PDF]

BMC Genom Data
Muhwezi R, Neel GR, Eilu E, Sankarapandian V, Shabohurira A, Abubakar M, Pius T, Dilli PP, Tijani NA, Makeri D.   +9 more
europepmc   +1 more source

TBK1‐Associated Primary Lateral Sclerosis Followed by Right Temporal Variant Frontotemporal Dementia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT We report a 58‐year‐old woman with a novel splice‐site variant in the TANK‐binding kinase 1 (TBK1:c.993–2A>C p.Ala332TyrfsTer39) who sequentially developed primary lateral sclerosis (PLS) followed by right temporal variant frontotemporal dementia (rtvFTD). Neuroimaging demonstrated right anterior temporal atrophy before cognitive symptoms, and
Tomoyasu Matsubara, Naoki Kihara, Satoko Miyatake, Koji Fujita, Konoka Tachibana, Ryosuke Miyamoto, Hiroki Yamazaki, Yusuke Osaki, Nazere Keyoumu, Yuki Kuwano, Nobutoshi Morimoto, Suzuran Saito, Eriko Koshimizu, Yoichi Otomi, Kenji Ishibashi, Masafumi Harada, Naomichi Matsumoto, Hiroyuki Morino, Yuishin Izumi   +18 more
wiley   +1 more source

Complete Mitochondrial Genome Sequence Structure and Phylogenetic Analysis of Choy Sum (Brassica rapa var. parachinensis). [PDF]

Int J Mol Sci
Liu T, Xu L, Hu Z, Xiong X, An X, Cao J.
europepmc   +1 more source

Monocyte LOXHD1 and RHOB Expression Predictive of Progressive Systemic Sclerosis–Associated Interstitial Lung Disease

Arthritis Care &Research, EarlyView.
Objective A leading cause of death among patients with scleroderma (SSc), interstitial lung disease (ILD) remains challenging to prognosticate. The discovery of biomarkers that accurately determine which patients would benefit from close monitoring and aggressive therapy would be an essential clinical tool.
Cristina M. Padilla, Robert Lafyatis, Kevin F. Gibson, Christina Morse, Eleanor Valenzi, Xiaoping Chen, Xiaoyun Li, Yanwu Zhao, Yongseok Park, Dana Ascherman, Jonathan Minden, Robyn Domsic, Yingze Zhang, Daniel J. Kass   +13 more
wiley   +1 more source

The genome sequence of the Mottled Grey, Colostygia multistrigaria (Haworth, 1809) (Lepidoptera: Geometridae). [PDF]

Wellcome Open Res
Crowley LM, Williams CD, University of Oxford and Wytham Woods Genome Acquisition Lab, Darwin Tree of Life Barcoding Collective, Wellcome Sanger Institute Tree of Life Management, Samples and Laboratory team, Wellcome Sanger Institute Scientific Operations: Sequencing Operations, Wellcome Sanger Institute Tree of Life Core Informatics team, Tree of Life Core Informatics collective, Darwin Tree of Life Consortium.   +9 more
europepmc   +1 more source

Genome sequence of <i>Streptomyces auratus</i> DSM 41897. [PDF]

Microbiol Resour Announc
Christenson B, Nouioui I, Daum C, Huntemann M, Seshadri R, Stephens C.   +5 more
europepmc   +1 more source