Results 101 to 110 of about 544,097 (312)

Harnessing Next-Generation Sequencing as a Timely and Accurate Second-Tier Screening Test for Newborn Screening of Inborn Errors of Metabolism

International Journal of Neonatal Screening
In this study, we evaluated the implementation of a second-tier genetic screening test using an amplicon-based next-generation sequencing (NGS) panel in our laboratory during the period of 1 September 2021 to 31 August 2022 for the newborn screening (NBS)
Toby Chun Hei Chan, Chloe Miu Mak, Matthew Chun Wing Yeung, Eric Chun-Yiu Law, Jana Cheung, Tsz Ki Wong, Vincent Wing-Sang Cheng, Jacky Kwan Ho Lee, Jimmy Chi Lap Wong, Cheuk Wing Fung, Kiran Moti Belaramani, Anne Mei Kwun Kwok, Kwok Yeung Tsang   +12 more
doaj   +1 more source

The planar cell polarity protein Vangl2 interacts with the PDZ‐domains of Scribble but not with a unique PDZ‐like domain in Inturned

FEBS Letters, EarlyView.
Structural and biochemical characterisations show that the planar cell polarity (PCP) protein Inturned harbours a unique PDZ‐like domain that does not bind canonical PDZ‐binding motifs (PBMs) like that of another PCP protein Vangl2. In contrast, the apical‐basal polarity protein Scribble contains four PDZ domains that bind Vangl2, but one PDZ domain ...
Stephan Wilmes, Jan Brysch, Carmen Gelze, Lilli Meier, Daniel Kümmel   +4 more
wiley   +1 more source

Rapid gas chromatographic-mass spectrometric diagnosis of dihydropyrimidine dehydrogenase deficiency and dihydropyrimidinase deficiency

, 2003
A rapid yet reliable chemical diagnosis for dihydropyrimidine dehydrogenase (DHPD) deficiency, and possibly dihydropyrimidinase (DHP) deficiency in cancer patients, prior to therapy with pyrimidine analogues such as 5-fluorouracil, is desired for ...
Ito, Tetsuya, Kuhara, Tomiko, Wada, Yoshiro, Ohdoi, Chie, van Kuilenburg, André B. P., Ohse, Morimasa, van Gennip, Albert H., Sumi, Satoshi, Matsumoto, Isamu   +8 more
core   +1 more source

Tau acetylation at K331 has limited impact on tau pathology in vivo

FEBS Letters, EarlyView.
We mapped tau post‐translational modifications in humanized MAPT knock‐in mice and in amyloid‐bearing double knock‐in mice. Acetylation within the repeat domain, particularly around K331, showed modest increases under amyloid pathology. To test functional relevance, we generated MAPTK331Q knock‐in mice.
Shoko Hashimoto, Yukio Matsuba, Mika Takahashi, Takaomi C. Saido   +3 more
wiley   +1 more source

Diagnosing alpha-1 antitrypsin deficiency: the first step in precision medicine [version 1; referees: 3 approved]

F1000Research, 2017
Severe alpha-1 antitrypsin (AAT) deficiency is one of the most common serious genetic diseases in adults of European descent. Individuals with AAT deficiency have a greatly increased risk for emphysema and liver disease.
Craig P. Hersh
doaj   +1 more source

Structural insights into an engineered feruloyl esterase with improved MHET degrading properties

FEBS Letters, EarlyView.
A feruloyl esterase was engineered to mimic key features of MHETase, enhancing the degradation of PET oligomers. Structural and computational analysis reveal how a point mutation stabilizes the active site and reshapes the binding cleft, expading substrate scope.
Panagiota Karampa, Konstantinos Makryniotis, Theofani‐Iosifina Sousani, Evangelos Topakas, Vangelis Daskalakis, Maria Dimarogona   +5 more
wiley   +1 more source

Gut microbiome and aging—A dynamic interplay of microbes, metabolites, and the immune system

FEBS Letters, EarlyView.
Age‐dependent shifts in microbial communities engender shifts in microbial metabolite profiles. These in turn drive shifts in barrier surface permeability of the gut and brain and induce immune activation. When paired with preexisting age‐related chronic inflammation this increases the risk of neuroinflammation and neurodegenerative diseases.
Aaron Mehl, Eran Blacher
wiley   +1 more source

Genetic lecithin:cholesterol acyltransferase deficiency and cardiovascular disease

, 2012
The lecithin:cholesterol acyltransferase (LCAT) enzyme is responsible for the synthesis of cholesteryl esters in human plasma and plays a critical role in high density lipoprotein (HDL) metabolism.
L. Calabresi, Monica Gomaraschi, G. Franceschini, Laura Calabresi, S. Simonelli, M. Gomaraschi, Sara Simonelli, Guido Franceschini   +7 more
core   +1 more source

Iron status and Helicobacter pylori infection in symptomatic children: an international multi-centered study [PDF]

, 2013
Objective:Iron deficiency (ID) and iron deficiency anaemia (IDA) are global major public health problems, particularly in developing countries. Whilst an association between H.
Sanderson Ian R., Harris, PR, Dermot Kelleher (215498), Ian R. Sanderson (430956), Ian R Sanderson, Henry J Windle, Harris, Paul, Jean E Crabtree, Bittencourt Paulo Fernando Souto, Walker, Marjorie M., Queiroz, DMM, Lucia Porto Fonseca de Castro (430959), Rocha, GA, Andrea Villagrán, Magalhaes Queiroz, DM, Kelleher, Dermot, Dulciene Maria Magalhaes Queiroz (381990), Harris Paul R., Paul R. Harris (430955), Lucia Porto Fonseca de Castro, Rocha Andreia Maria Camargos, Andrea Villagrán (430960), Carvalho, Simone Diniz, Villagran, Andrea, Serrano Carolina, Gifone Aguiar Rocha (381993), Walker Marjorie M., Carvalho Simone Diniz, Windle, HJ, Rocha, AMC, Crabtree Jean E., Dermot Kelleher, Paulo Fernando Souto Bittencourt (381996), de Castro, LPF, Dulciene Maria Magalhaes Queiroz, Kelleher Dermot, Walker, MM, Marjorie M. Walker (430958), Serrano, C, Magalhaes Queiroz, Dulciene Maria, Sanderson, IR, de Castro Lucia Porto Fonseca, Carolina Serrano, Rocha Gifone Aguiar, Fonseca de Castro, Lucia Porto, Andreia Maria Camargos Rocha (381991), Bittencourt, PFS, Crabtree, JE, Souto Bittencourt, PF, Simone Diniz Carvalho (381995), Simone Diniz Carvalho, Villagrán, A, Rocha, Gifone Aguiar, Henry J. Windle (430957), Windle, Henry J., Serrano, Carolina, Jean E. Crabtree (298225), Villagrán Andrea, Crabtree, Jean E., Andreia Maria Camargos Rocha, Paul R Harris, Paulo Fernando Souto Bittencourt, Kelleher, D, Souto Bittencourt, Paulo Fernando, Gifone Aguiar Rocha, Windle Henry J., Camargos Rocha, Andreia Maria, Fonseca de Castro, LP, Marjorie M Walker, Carvalho, SD, Carolina Serrano (430961), Queiroz Dulciene Maria Magalhaes, Sanderson, Ian R., Camargos Rocha, AM   +73 more
core   +1 more source

A challenging diagnosis of alpha-1-antitrypsin deficiency: identification of a patient with a novel F/Null phenotype

Allergy, Asthma & Clinical Immunology, 2011
Alpha-1-antitrypsin (A1AT) deficiency is a genetic disease characterized by low levels and/or function of A1AT protein. A1AT deficiency can result in the development of COPD, liver disease, and certain skin conditions.
Ringenbach Michael R, Banta Erin, Snyder Melissa R, Craig Timothy J, Ishmael Faoud T   +4 more
doaj   +1 more source