Results 251 to 260 of about 1,866,513 (309)

Mass spectrometry based identification of AMP‐O‐Tris generated by Thermococcus onnurineus Cas10

FEBS Open Bio, EarlyView.
Isolated Thermococcus onnurineus Cas10 generates the noncanonical ATP‐derived product AMP‐O‐Tris while in Tris‐containing buffer as identified via mass spectrometry, revealing relaxed nucleophile selectivity under isolated conditions. These findings suggest that multiprotein Csm complex assembly restricts Cas10 reactivity toward canonical cyclic ...
Su‐Jin Lee, Ga Seul Lee, JinHan Kim, Kwang‐Hyun Park, Seong‐Ryung Go, Jeong Hee Moon, Eui‐Jeon Woo   +6 more
wiley   +1 more source

A SCN5A gene mutation (c.1768 A>C, p.K590Q) in a patient with Brugada syndrome: a case report. [PDF]

Am J Transl Res
Wang J, Pan S.
europepmc   +1 more source

Identifying gene expression signatures for risk stratification of postoperative adjuvant chemotherapy in colorectal cancer

FEBS Open Bio, EarlyView.
A novel signature integrating genome‐wide analysis with clinical factors predicts recurrence in stage II colorectal cancer and enables a new risk stratification to guide postoperative adjuvant chemotherapy. Clinical risk stratification for postoperative recurrence in patients with pathological stage II (pStage II) colorectal cancer (CRC) is essential ...
Mayuko Otomo, Keisuke Okuno, Shuichi Watanabe, Sakiko Oba, Hiroyasu Kagawa, Masanori Tokunaga, Daisuke Ban, Yusuke Kinugasa   +7 more
wiley   +1 more source

YIPFα1A expression is regulated by multilayered molecular mechanisms

FEBS Open Bio, EarlyView.
YIPFα1A, a five‐pass Golgi protein, is regulated at multiple layers. (1) Rare‐codon enrichment drives translation‐coupled mRNA decay. (2) A proximal 3′‐UTR element stabilizes mRNA. (3) A distal 3′‐UTR element included by alternate poly(A) site usage represses translation, which can be overridden by the proximal 3′‐UTR element.
Tokio Takaji, Yurika Nakanishi, Nobuhiro Nakamura   +2 more
wiley   +1 more source

Hyperinsulinism-hyperammonemia syndrome associated with GLUD1 gene mutation: a case series. [PDF]

J Med Case Rep
Abdulghfar MM, Alsagheir A, Abdullah IA, Alhuthil R.   +3 more
europepmc   +1 more source

Case Report: UMOD gene mutation and phenotypic overlap with REN in autosomal dominant tubulointerstitial kidney disease. [PDF]

Front Genet
Xu J, Chen E, Shi W, He W, Yu D, Li X.
europepmc   +1 more source

A child with tuberous sclerosis having Novel NRAS gene mutation. [PDF]

J Family Med Prim Care
Liveinai PN, Kumar N, Kadian J, Yadav D, Bhalla K.   +4 more
europepmc   +1 more source

The effect of HFE gene mutation and iron overload on sustained virological response in Egyptian chronic hepatitis C patients treated with daclatasvir and sofosbuvir. [PDF]

Korean J Intern Med
Kodsi EM, Ismail H, Issa R, Elshaarawy A, Sakr MA, Shehata EL, Issak ER.   +6 more
europepmc   +1 more source

Long QT Syndrome With KCNH2/SCN5A Dual Gene Mutation Leading to Electrical Storm. [PDF]

JACC Case Rep
Ding Q, Lu L, Li S, Guo M.
europepmc   +1 more source