Results 81 to 90 of about 2,564 (175)

A New Mutation in IDS Gene Causing Hunter Syndrome: A Case Report

Frontiers in Genetics, 2020
RationaleMucopolysaccharidosis type II (Hunter syndrome) is an X-linked multisystem disorder, caused by deficiency of the lysosomal enzyme iduronate-2-sulfatase (I2S).
Caio Perez Gomes, Maryana Mara Marins, Fabiana Louise Motta, Sandra Obikawa Kyosen, Marco Antonio Curiati, Vânia D’Almeida, Ana Maria Martins, João Bosco Pesquero   +7 more
doaj   +1 more source

Challenges in the Management of Mucopolysaccharidosis Type II (Hunter’s Syndrome) in a Developing Country: a Case Report [PDF]

, 2015
BACKGROUND: Mucopolysaccharidosis type II (Hunter's syndrome) is an X-linked chromosomal storage disorder due to deficiency of the lysosomal enzyme iduronate-2-sulfatase with patients rarely living till adulthood. Failure to identify patients early could
AbdulAzeez, A, Abdulkadri, M, Ibraheem, G, Ibraheem, R, Katibi, S, Oladele, P   +5 more
core   +2 more sources

Gene editing in liver diseases

FEBS Letters, Volume 598, Issue 19, Page 2348-2371, October 2024.
Gene editing consists of the deliberate and precise modification of the host genome. It can be used for therapeutic purposes to treat genetic diseases, including inherited liver disorders, by inserting therapeutic genes, correcting pathogenic genes, or modulating the expression of specific genes.
Laura Torella, Nerea Santana‐Gonzalez, Nerea Zabaleta, Gloria Gonzalez Aseguinolaza   +3 more
wiley   +1 more source

Identification of 17 novel mutations in 40 Argentinean unrelated families with mucopolysaccharidosis type II (Hunter syndrome) [PDF]

, 2019
Mucopolysaccharidosis type II (MPSII) is an X-linked lysosomal storage disorder caused by deficiency of the enzyme iduronate-2-sulfatase (IDS). The human IDS gene is located in chromosome Xq28.
Amartino, H., Arberas, C., Bay, L., Cabrera, A., Ceci, Romina, Dipierri, J., Gal, A., Ilari, R., Masllorens, F., Rozenfeld, P., Specola, N.   +10 more
core   +3 more sources

Non‐syndromic retinal dystrophy associated with biallelic variation of SUMF1 and reduced leukocyte sulfatase activity

Clinical Genetics, Volume 106, Issue 4, Page 505-511, October 2024.
We describe three patients with biallelic SUMF1 variants, reduced sulfatase enzyme activity, and retinal dystrophy. Phenotypes range from mild systemic manifestations to isolated ocular involvement, representing the mildest documented phenotypes associated with multiple sulfatase deficiency.
Siying Lin, Anthony G. Robson, Dorothy A. Thompson, Karolina M. Stepien, Robin Lachmann, Emma Footitt, Ola Czyz, Shwetha Chandrasekhar, Elena Schiff, Christos Iosifidis, Graeme C. Black, Michel Michaelides, Omar A. Mahroo, Gavin Arno, Andrew R. Webster   +14 more
wiley   +1 more source

A biological guide to glycosaminoglycans: current perspectives and pending questions

The FEBS Journal, Volume 291, Issue 15, Page 3331-3366, August 2024.
Mammalian glycosaminoglycans, except hyaluronan, are sulfated polysaccharides that are covalently attached to core proteins to form proteoglycans. They contribute to the organization of the extracellular matrix and are displayed at the cell surface where they regulate the availability and activity of cytokines and growth factors and cell signaling ...
Sylvie Ricard‐Blum, Romain R. Vivès, Liliana Schaefer, Martin Götte, Rosetta Merline, Alberto Passi, Paraskevi Heldin, Ana Magalhães, Celso A. Reis, Spyros S. Skandalis, Nikos K. Karamanos, Serge Perez, Dragana Nikitovic   +12 more
wiley   +1 more source

Intellectual disability: A potentially treatable condition

Journal of Paediatrics and Child Health, Volume 60, Issue 7, Page 273-278, July 2024.
The application of genomics has greatly increased the diagnosis of specific monogenic causes of intellectual disability and improved our understanding of the neuronal processes that result in cognitive impairment. Meanwhile, families are building rare disease communities and seeking disease‐specific treatments to change the trajectory of health and ...
Sarah E Donoghue, David J Amor
wiley   +1 more source

Advancing clinical development for neuronopathic Hunter syndrome through a quantitatively‐driven reverse translation framework

Clinical and Translational Science, Volume 17, Issue 4, April 2024.
Abstract A quantitatively‐driven evaluation of existing clinical data and associated knowledge to accelerate drug discovery and development is a highly valuable approach across therapeutic areas, but remains underutilized. This is especially the case for rare diseases for which development is particularly challenging.
Robert D. Latzman, Olivia Campagne, Meera E. Modi, Marta Karas, C. J. Malanga, David A. H. Whiteman   +5 more
wiley   +1 more source

MicroRNA co-expression networks exhibit increased complexity in pancreatic ductal compared to Vater’s papilla adenocarcinoma [PDF]

, 2017
iRNA expression abnormalities in adenocarcinoma arising from pancreatic ductal system (PDAC) and Vater’s papilla (PVAC) could be associated with distinctive pathologic features and clinical cancer behaviours.
Andriulli, Angelo, Biagini, Tommaso, Capocefalo, Daniele, Carella, Massimo, Copetti, Massimiliano, De Bonis, Antonio, Di Sebastiano, Pierluigi, Francesco Di Mola, Fabio, Fusilli, Caterina, Maiello, Evaristo, Mastrodonato, Nicola, Mazza, Tommaso, Pazienza, Valerio, Piepoli, Ada, Tavano, Francesca   +14 more
core   +1 more source

Low expression of TGF‐β2 and matrilin2 in human aqueous humour with acute primary angle closure

Journal of Cellular and Molecular Medicine, Volume 28, Issue 3, February 2024.
Abstract Primary angle‐closure glaucoma (PACG) is the leading cause of irreversible blindness in the world. Angle closure induced by pupil block and secondary iris synechia is the fundamental pathology of the PACG. The molecular mechanisms of angle closure have not yet been clearly illustrated.
Liming Wang, Zhao Xu, Yaru Hong, Yan Liu, Xiaomin Zhang, Qiang Feng, Dandan Zhang, Kexi Chen, Guli Humaer Yiming, Xiaorong Li, Aihua Liu, Lijie Dong   +11 more
wiley   +1 more source