Results 41 to 50 of about 4,149 (173)

Possible effects of EXT2 on mesenchymal differentiation - lessons from the zebrafish [PDF]

Orphanet Journal of Rare Diseases, 2014
Mutations in the EXT genes disrupt polymerisation of heparan sulphates (HS) and lead to the development of osteochondroma, an isolated/sporadic- or a multifocal/hereditary cartilaginous bone tumour. Zebrafish (Danio rerio) is a very powerful animal model which has shown to present the same cartilage phenotype that is commonly seen in mice model and ...
Wiweger, M.I., Andrea, C.E. de, Scheepstra, K.W.F., Zhao, Z., Hogendoorn, P.C.W.   +4 more
openaire   +3 more sources

The histone deacetylase inhibitor, suberoylanilide hydroxamic acid, restores blood–brain barrier integrity in a human stem cell‐based model of ischaemic stroke

British Journal of Pharmacology, EarlyView.
Ischaemic stroke is characterised by acute cerebrovascular occlusion and blood–brain barrier (BBB) breakdown. Our results indicated that the histone deacetylase inhibitor suberoylanilide hydroxamic acid (SAHA) ameliorated the loss of BBB integrity, changed the morphology of brain endothelial cells, increased the level of basement membrane and ...
Anikó Szecskó, Koppány Párdi, Zuhao Cui, Gergő Porkoláb, Zsófia Hoyk, Csilla Kovács, Janet F. Adegbite, Virág Fodor, Nárcisz M. Cser, László Dér, Krisztina Nagy, Csilla Sajben, Roland Tengölics, Mária A. Deli, Szilvia Veszelka   +14 more
wiley   +1 more source

An Easy-to-Use Approach to Detect CNV From Targeted NGS Data: Identification of a Novel Pathogenic Variant in MO Disease

Frontiers in Endocrinology, 2022
BackgroundDespite the new next-generation sequencing (NGS) molecular approaches implemented the genetic testing in clinical diagnosis, copy number variation (CNV) detection from NGS data remains difficult mainly in the absence of bioinformatics personnel
Serena Corsini, Elena Pedrini, Claudio Patavino, Maria Gnoli, Marcella Lanza, Luca Sangiorgi   +5 more
doaj   +1 more source

A broad spectrum of genomic changes in latinamerican patients with EXT1/EXT2-CDG [PDF]

Scientific Reports, 2014
Multiple osteochondromatosis (MO), or EXT1/EXT2-CDG, is an autosomal dominant O-linked glycosylation disorder characterized by the formation of multiple cartilage-capped tumors (osteochondromas). In contrast, solitary osteochondroma (SO) is a non-hereditary condition.
Delgado, M. A., Martinez-Domenech, G., Sarrión Pérez-Caballero, Patricia, Urreizti, Roser, Zecchini, L., Robledo, H. H., Segura, F., Dodelson de Kremer, Raquel, Balcells Comas, Susana, Grinberg Vaisman, Daniel Raúl, Asteggiano, Carla   +10 more
openaire   +5 more sources

High‐Resolution Genomic Characterization of WAGR Spectrum Disorder: Insights From a Novel Cohort and Literature Synthesis, and Validation of Patient‐Reported Data

American Journal of Medical Genetics Part A, Volume 200, Issue 9, Page 1989-1999, September 2026.
ABSTRACT WAGR spectrum disorder (WAGRSD) is an ultra‐rare congenital disorder caused by heterozygous deletion of chromosome 11p13. While classically associated with Wilms tumor, Aniridia, Genitourinary anomalies, and a Range of developmental delays, accurate delineation of the deletion is critical for prognosis because the phenotypic spectrum extends ...
Andrew M. George, Bamelak T. Duki, Zoe S. Katz, Aravind Viswanathan, Suzanne P. MacFarland, Evan R. Hathaway, Caitlin Monahan, John Morris, Kelly L. Trout, Shari M. Krantz, Arupa Ganguly, Jennifer M. Kalish   +11 more
wiley   +1 more source

Human Proteoglycan Linkage Region Glycosyltransferases are Dimeric and Show Unexpected Specificities

Angewandte Chemie, Volume 138, Issue 3, 16 January 2026.
Non‐canonical glycopeptides of the proteoglycan linkage region are accessible by the enzymes B3GalT6 and GlcAT‐1 confirming a recently discovered rescue mode in glycosaminoglycan (GAG) biosynthesis. The crystal structure of B3GalT6 revealed a covalent dimer linked by a disulfide. Abstract We selected the N,O‐glycosylated proteoglycan bikunin as a model
Sascha Weidler, Ole Bundgaard, Markus Hessefort, Marisa Rädisch, Christopher Günther Franz Graf, Kevin Lam, Vanessa J. Neubauer, Johanna Eisenreich, Leonhard Köhler, Kelley W. Moremen, Catharina Steentoft, Henrik Clausen, Teng‐Yi Huang, Shang‐Cheng Hung, Clemens Steegborn, Michael Weyand, Carlo Unverzagt   +16 more
wiley   +2 more sources

The WHO Classification of Genetic Tumour Syndromes: Considerations for Genetics

Clinical Genetics, Volume 110, Issue 3, Page 389-401, September 2026.
The WHO Classification of Tumours underpins the diagnosis of neoplastic conditions. The new WHO classification of genetic tumour syndromes (GTS) provides international standards for their diagnosis. This diagram highlights the chromosomal distribution of the genes involved in the GTS covered in this classification.
Ian A. Cree, Mark J. Arends, Joseph D. Khoury, Erika R. E. Denton, Anthony J. Gill, Alexander J. Lazar, Ian M. Frayling, Stefan M. Pfister, Mark A. Rubin, Katia R. M. Leite, Raymond Dalgleish, Elspeth A. Bruford, Sharon E. Plon, Ada Hamosh, Michael Francis Walsh, Gabrielle Goldman‐Lévy, Harshima Wijesinghe, William D. Foulkes, Dilani Lokuhetty   +18 more
wiley   +1 more source

La unión de Candida albicans y Malassezia spp. a células de piel promueve cambios de expresión en los genes responsables de la síntesis de las cadenas de heparán y condroitín sulfato

Actas Dermo-Sifiliográficas, 2022
Resumen: Las micosis superficiales son patologías prevalentes en dermatología, causadas frecuentemente por hongos oportunistas de los géneros Candida y Malassezia.
H. Ordiales, F. Vázquez-López, M. Pevida, B. Vázquez-Losada, F. Vázquez, L.M. Quirós, C. Martín   +6 more
doaj   +1 more source

Chronic Pain as an Early Diagnostic Clue in Hereditary Multiple Exostoses: Two Pediatric Cases Highlighting Diagnostic Delay

Clinical Case Reports, Volume 14, Issue 8, August 2026.
ABSTRACT Hereditary multiple exostoses (HME) is a rare autosomal dominant skeletal disorder characterized by the development of multiple osteochondromas adjacent to the growth plates. Although skeletal deformities and palpable masses are common findings, chronic pain may represent an early and underappreciated diagnostic clue, particularly in pediatric
Melissa Mariti Fraga, Valesca Oliveira Paes Tanaka, Luciana Tudech Salgueiro Pedro Paulo, Maria Carolina Santos, Carolina Costa Figueiredo, Nara Michelle de Araújo Evangelista, Vânia de Fátima Tonetto Fernandes, Guido de Paula Colares Neto   +7 more
wiley   +1 more source

[Translated article] Adherence of Candida albicans and Malassezia Species to Skin Cells Induces Changes in the Expression of Genes Responsible for Heparan and Chondroitin Sulfate Chain Synthesis

Actas Dermo-Sifiliográficas, 2022
Superficial fungal infections are common in dermatology and are often caused by opportunistic species in the Candida and Malassezia genera. The aim of this study was to analyze changes in the expression of genes coding for enzymes involved in the ...
H. Ordiales, F. Vázquez-López, M. Pevida, B. Vázquez-Losada, F. Vázquez, L.M. Quirós, C. Martín   +6 more
doaj   +1 more source