Results 91 to 100 of about 1,249,164 (307)

Structural instability impairs function of the UDP‐xylose synthase 1 Ile181Asn variant associated with short‐stature genetic syndrome in humans

FEBS Letters, EarlyView.
The Ile181Asn variant of human UDP‐xylose synthase (hUXS1), associated with a short‐stature genetic syndrome, has previously been reported as inactive. Our findings demonstrate that Ile181Asn‐hUXS1 retains catalytic activity similar to the wild‐type but exhibits reduced stability, a looser oligomeric state, and an increased tendency to precipitate ...
Tuo Li, Pedro A. Sánchez‐Murcia, Bernd Nidetzky   +2 more
wiley   +1 more source

University Students' Attitudes Towards Individuals with Disabilities and Their Education in Türkiye: The Case of a Private Non-Profit University

Uluslararası Türk Eğitim Bilimleri Dergisi
The readiness levels of the university environment play a crucial role in enabling individuals with disabilities to benefit more from higher education.
Özlem Özaydın, Yunus Emre Aydın, Döne Kaplan, Gülhan Kalmuk, Mehmet Emin Mansurgüler   +4 more
doaj   +1 more source

Fasilitas Terapi Anak Down Syndrome di Surabaya [PDF]

, 2013
-Fasilitas terapi anak down syndrome diSurabaya ditujukan bagi anak-anak dengan downsyndrome dengan rentang usia 0-18 tahun. Jumlahpenderita yang cukup banyak dan tidak adanyafasilitas pendukung khusus untuk anak downsyndrome melatar belakangi pembuatan ...
Mulia, A. (Amanda)
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Tumor and germline testing with next generation sequencing in epithelial ovarian cancer: a prospective paired comparison using an 18‐gene panel

Molecular Oncology, EarlyView.
Genetic testing in epithelial ovarian cancer includes both germline and tumor‐testing. This approach often duplicates resources. The current prospective study assessed the feasibility of tumor‐first multigene testing by comparing tumor tissue with germline testing of peripheral blood using an 18‐gene NGS panel in 106 patients.
Elisabeth Spenard, Cristina Mitric, Melanie Care, Tracy L. Stockley, Raymond H. Kim, Jeanna McCuaig, Blaise Clarke, Laura Ranich, Clare Sheen, Sarah E. Ferguson, Liat Hogen, Taymaa May, Marcus Q. Bernardini   +12 more
wiley   +1 more source

Evidence of blood–brain barrier dysfunction and CSF immunoglobulin synthesis in Down Syndrome Regression Disorder

Annals of Clinical and Translational Neurology
Objectives This study sought to evaluate proteomic, metabolomic, and immune signatures in the cerebrospinal fluid of individuals with Down Syndrome Regression Disorder (DSRD). Methods A prospective case–control study comparing proteomic, metabolomic, and
Jonathan D. Santoro, Neetha Paul Eduthan, Mellad M. Khoshnood, Saba Jafarpour, Natalie K. Boyd, Benjamin N. Vogel, Lina Nguyen, Lilia Kazerooni, Eleanor Britton, Hannah R. Lyford, Matthew D. Galbraith, Angela L. Rachubinski, Joaquin M. Espinosa   +12 more
doaj   +1 more source

The effect of a telehealth exercise intervention on balance in adults with Down syndrome

, 2022
Kristina Guerrero, Alexandria Umagat, M. A. Barton, Andrew Martinez, Kai‐Yu Ho, Sarah Mann, Thessa I.M. Hilgenkamp   +6 more
openalex   +2 more sources

CDK11 inhibition induces cytoplasmic p21WAF1 splice variant by p53 stabilisation and SF3B1 inactivation

Molecular Oncology, EarlyView.
CDK11 inhibition stabilises the tumour suppressor p53 and triggers the production of an alternative p21WAF1 splice variant p21L, through the inactivation of the spliceosomal protein SF3B1. Unlike the canonical p21WAF1 protein, p21L is localised in the cytoplasm and has reduced cell cycle‐blocking activity.
Radovan Krejcir, Lukasz Arcimowicz, Lucia Martinkova, Vaclav Hrabal, Filip Zavadil Kokas, Tomas Henek, Martina Kucerikova, Ondrej Bonczek, Pavlina Zatloukalova, Lenka Hernychova, Philip J. Coates, Borivoj Vojtesek, David P. Lane   +12 more
wiley   +1 more source

Voxel‐based dysconnectomic brain morphometry with computed tomography in Down syndrome

Annals of Clinical and Translational Neurology
Objective Alzheimer's disease (AD) is a major health concern for aging adults with Down syndrome (DS), but conventional diagnostic techniques are less reliable in those with severe baseline disability.
Beatriz Sánchez‐Moreno, Linda Zhang, Gloria Mateo, Fernando Moldenhauer, Mikael Brudfors, John Ashburner, Parashkev Nachev, Diego Real deAsúa, Bryan A. Strange   +8 more
doaj   +1 more source

Molecular characterisation of human penile carcinoma and generation of paired epithelial primary cell lines

Molecular Oncology, EarlyView.
Generation of two normal and tumour (cancerous) paired human cell lines using an established tissue culture technique and their characterisation is described. Cell lines were characterised at cellular, protein, chromosome and gene expression levels and for HPV status.
Simon Broad, Mahmood Hachim, Tom Bertin, Karolina Penderecka, Rifat Hamoudi, Saif Khan, Rui Henrique, Natalie Bergmoser, Manit Arya, Kalle Sipila, Matteo Vietri Rudan, Asif Muneer, Aamir Ahmed   +12 more
wiley   +1 more source

Humoral Immunity in Children with Down Syndrome [PDF]

, 2015
__Abstract__ Down syndrome is the most common cause of developmental delay in humans. In The Netherlands, each year approximately 250 children with Down syndrome are born.
Verstegen, R.H.J. (Ruud)
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