Zobrazeno 1 - 10
of 58
pro vyhledávání: '"XYLT2"'
Autor:
Gabriella Doddato, Alessandra Fabbiani, Chiara Fallerini, Mirella Bruttini, Theodora Hadjistilianou, Martino Landi, Caterina Coradeschi, Salvatore Grosso, Barbara Tomasini, Maria Antonietta Mencarelli, Alessandra Renieri, Francesca Ariani
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
Externí odkaz:
https://doaj.org/article/095c04efe42e4eae9a4b3bd5420fe118
Autor:
Gabriella Doddato, Alessandra Fabbiani, Chiara Fallerini, Mirella Bruttini, Theodora Hadjistilianou, Martino Landi, Caterina Coradeschi, Salvatore Grosso, Barbara Tomasini, Maria Antonietta Mencarelli, Alessandra Renieri, Francesca Ariani
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
Spondyloocular syndrome (SOS) is a skeletal disorder caused by pathogenic variants in XYLT2 gene encoding a xylotransferase involved in the biosynthesis of proteoglycans. This condition, with autosomal recessive inheritance, has a high phenotypic var
Externí odkaz:
https://doaj.org/article/f0f0382478784a97b012b7d2f97d62f2
Autor:
Mehran Kausar, Elaine Guo Yan Chew, Hazrat Ullah, Mariam Anees, Chiea Chuen Khor, Jia Nee Foo, Outi Makitie, Saima Siddiqi
Publikováno v:
Frontiers in Genetics, Vol 10 (2019)
We report on three new patients with spondyloocular syndrome (SOS) in a consanguineous Pakistani family. All three patients present progressive generalized osteoporosis, short stature, recurrent fractures, hearing loss and visual impairments. WES rev
Externí odkaz:
https://doaj.org/article/2e3d2cc6bcaa44dd9215eebeea2e4742
Akademický článek
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Autor:
Myron E. Hinsdale, Melanie A. Breshears, Fuming Zhang, Robert J. Linhardt, Pulavendran Sivasami, Nabin Poudel, Nandita Natasha Naidu, Maria Cristina Munteanu, Biswa Choudhury, Eduard Condac, Beatrix Ferencz
Publikováno v:
Glycoconj J
In this paper we characterize the function of Xylosyltransferase 2 (XylT2) in different tissues to investigate the role XylT2 has in the proteoglycan (PG) biochemistry of multiple organs. The results show that in all organs examined there is a widesp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::509993890cbfbf1de147b752efe3c093
https://doi.org/10.1007/s10719-020-09945-9
https://doi.org/10.1007/s10719-020-09945-9
Autor:
Elisabeth Graf, J. Hoover, D. Hendig, T. M. Strom, J. Alanay, Muhammad Umair, Gerda Rudolph, Heinrich Schmidt, G. Eckstein, Thomas Meitinger, Wasim Ahmad
Publikováno v:
Clin. Genet. 93, 913-918 (2017)
Spondyloocular syndrome (SOS) is a rare autosomal recessive skeletal disorder. Two recent studies have shown that it is the result of biallelic sequence variants in the XYLT2 gene with pleiotropic effects in multiple organs including retina, heart mu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cb46e861dd4dc26c30e286410a1c294f
https://doi.org/10.1111/cge.13179
https://doi.org/10.1111/cge.13179
Akademický článek
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K zobrazení výsledku je třeba se přihlásit.
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Autor:
Edoardo Giacopuzzi, Valeria Cinquina, Marina Venturini, Marco Ritelli, Nicola Chiarelli, Marina Colombi
Publikováno v:
Genes
Volume 10
Issue 9
Genes, Vol 10, Iss 9, p 631 (2019)
Volume 10
Issue 9
Genes, Vol 10, Iss 9, p 631 (2019)
The term linkeropathies (LKs) refers to a group of rare heritable connective tissue disorders, characterized by a variable degree of short stature, skeletal dysplasia, joint laxity, cutaneous anomalies, dysmorphism, heart malformation, and developmen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::91bf110068a0faace8990b4d380e931e
http://europepmc.org/articles/PMC6770791
http://europepmc.org/articles/PMC6770791
Autor:
Vanessa Schmidt, Bastian Fischer, Doris Hendig, Isabel Faust, Ricarda Plümers, Joachim Kuhn, Cornelius Knabbe, Thanh-Diep Ly
Publikováno v:
Biomolecules, Vol 10, Iss 609, p 609 (2020)
Biomolecules
Volume 10
Issue 4
Biomolecules
Volume 10
Issue 4
Fibrosis is a fundamental feature of systemic sclerosis (SSc) and is characterized by excessive accumulation of extracellular matrix components like proteoglycans (PG) or collagens in skin and internal organs. Serum analysis from SSc patients showed
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ebdb1c2959ff8c0895badc8fac7c5273
https://doi.org/10.3390/biom10040609
https://doi.org/10.3390/biom10040609
Autor:
Mehran Kausar, Elaine Guo Yan Chew, Hazrat Ullah, Mariam Anees, Chiea Chuen Khor, Jia Nee Foo, Outi Makitie, Saima Siddiqi
Publikováno v:
Frontiers in Genetics, Vol 10 (2019)
Frontiers in Genetics
Frontiers in Genetics
We report on three new patients with spondyloocular syndrome (SOS) in a consanguineous Pakistani family. All three patients present progressive generalized osteoporosis, short stature, recurrent fractures, hearing loss and visual impairments. WES rev
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d0b36c914ad7adce09cfd4572effb0a
https://pubmed.ncbi.nlm.nih.gov/30891060
https://pubmed.ncbi.nlm.nih.gov/30891060