Results 41 to 50 of about 1,383,473 (237)

Human induced pluripotent stem cell line (PNUSCRi005-A) generated from severe type of Hunter syndrome patient carrying exonic deletion (exon 4–7 del) in in human iduronate 2-sulfatase gene

Stem Cell Research
Mucopolysaccharidosis Type Ⅱ, as Known as Hunter syndrome, is a rare X-liked genetic disease caused by mutations in iduronate-2-sulfatase (IDS) gene.
Nayeon Lee, Haneul Noh, Chong Kun Cheon
doaj   +1 more source

Craniofacial growth, modeling, and estimation of milestones

The Anatomical Record, EarlyView.
Abstract Understanding craniofacial growth is foundational for research into intra‐ and interspecies variation, evolution, and clinical care. The Craniofacial Growth Consortium Study (CGCS), combines cephalographs from historical growth studies to create a dense longitudinal record of growth from 6 to 22 years of age.
Richard J. Sherwood, Dana L. Duren, Christina L. Holzhauser, Hee Soo Oh, Manish Valiathan, Kieran P. McNulty, Kevin M. Middleton   +6 more
wiley   +1 more source

OBSTRUCTIVE SLEEP APNEA SYNDROME IN CHILDREN WITH TYPE II MUCOPOLYSACCHARIDOSIS (HUNTER SYNDROME)

Педиатрическая фармакология, 2013
17 children received cardiorespiratory monitoring in order to evaluate spread and dynamics of changes in the primary obstructive sleep apnea syndrome (OSAS) parameters at type II mucopolysaccharidosis.
N. D. Vashakmadze, L. S. Namazova-Baranova, A. K. Gevorkyan, V. V. Altunin, L. M. Kuzenkova, E. G. Chernavina, M. A. Babaykina, T. V. Podkletnova, O. V. Kozhevnikova   +8 more
doaj   +1 more source

Assessment of Activity of Daily Life in Mucopolysaccharidosis Type II Patients with Hematopoietic Stem Cell Transplantation

Diagnostics, 2020
The effectiveness of hematopoietic stem cell transplantation (HSCT) for mucopolysaccharidosis type II (MPS II, Hunter disease) remains controversial although recent studies have shown HSCT provides more clinical impact.
Yasuyuki Suzuki, Madeleine Taylor, Kenji Orii, Toshiyuki Fukao, Tadao Orii, Shunji Tomatsu   +5 more
doaj   +1 more source

Periportal Capsulotomy Shows Promising Short‐Term Outcomes Compared With an Interportal Capsulotomy for the Treatment of Femoroacetabular Impingement Syndrome in Borderline and Dysplastic Female Patients

Arthroscopy, EarlyView.
Purpose To compare patient‐reported outcomes (PROs) and revision rates between borderline and dysplastic women who underwent an interportal capsulotomy approach versus a capsular sparing periportal capsulotomy approach for the treatment of femoroacetabular impingement syndrome. Methods Female patients with a lateral center edge angle ≤25° who underwent
Benjamin T. Johnson, Allan K. Metz, Zoe D. Trutner, Charles L. Holliday, Keaton Andra, Collin D. R. Hunter, Stephen K. Aoki   +6 more
wiley   +1 more source

Genetic and population analyses implicate thyroid‐related regulation of RNF144B in chondrocalcinosis

Arthritis &Rheumatology, Accepted Article.
Objectives Chondrocalcinosis, characterized by calcium crystal deposition within articular cartilage, affects 5–15% of the general population and has recently been identified as an osteoarthritis risk factor. However, Its biological pathways remain unclear.
Yahong Wu, Yanning Xu, Paul C. Okoro, Sirine Saafi, Jard de Vries, Xiaoyi Qi, Edwin H.G. Oei, Sita Bierma‐Zeinstra, Trudy Voortman, David Felson, Joyce BJ van Meurs, Layal Chaker, J. Mark Wilkinson, Michelle S. Yau, Jessica Bertrand, Cindy G. Boer   +15 more
wiley   +1 more source

Paediatric development of radiopharmaceutical imaging agents and radioligand therapeutics

British Journal of Clinical Pharmacology, EarlyView.
Abstract This review focuses on the development of radiopharmaceutical imaging agents and radioligand therapeutics for paediatric use. Nuclear medicine plays an important role in the diagnosis and treatment of various childhood conditions, including cancers, infections and brain disorders.
Justin L. Hay, Amandine Manon, Hunter Stephens, S. Y. Amy Cheung, Bart de Keizer, Erik T. te Beek   +5 more
wiley   +1 more source

RNA‐centric world of retroviruses: unravelling the molecular strategies of genomic RNA packaging

Biological Reviews, EarlyView.
ABSTRACT Retroviruses constitute a unique group of RNA viruses that have profoundly influenced both evolutionary trajectories and biomedical research. Their ability to reverse transcribe and integrate into host genomes has shaped genomic architecture across species and contributed to our understanding of oncogenes, gene regulation, and RNA biology ...
Mohammad Abdullah Jehad, Suresha G. Prabhu, Lizna M. Ali, Vineeta N. Pillai, Farah Mustafa, Tahir A. Rizvi   +5 more
wiley   +1 more source

Birth weight in patients with mucopolysaccharidosis type II: Data from the Hunter Outcome Survey (HOS)

Molecular Genetics and Metabolism Reports, 2017
There is a need to identify early disease markers to facilitate diagnosis of mucopolysaccharidosis type II (MPS II; Hunter syndrome). Mean birth weight and its association with disease severity was investigated in 609 patients enrolled in the Hunter ...
Olaf Bodamer, Maurizio Scarpa, Christina Hung, Tom Pulles, Roberto Giugliani   +4 more
doaj   +1 more source

Land birds on atolls: diversity, origin, and function

Biological Reviews, EarlyView.
ABSTRACT Oceanic islands are global hotspots of avian biodiversity and endemism. Their isolation and distinct environmental conditions have uniquely shaped the evolutionary trajectories of island birds, while, in turn, land bird communities have become critical providers of ecological functions to island ecosystems.
Sebastian Steibl, Alex S. Wegmann, Nick D. Holmes, Caitlin E. Andrews, Gérard Rocamora, Simon Ducatez, James C. Russell   +6 more
wiley   +1 more source