Results 31 to 40 of about 4,066 (131)

Haploinsufficiency of EXT1 and Heparan Sulphate Deficiency Associated with Hereditary Multiple Exostoses in a Pakistani Family

Medicina, 2022
Background and Objectives: Hereditary multiple exostoses (HME) is a disease characterized by cartilage-capped bony protuberances at the site of growth plates of long bones.
Muhammad Ajmal, Hafsah Muhammad, Muhammad Nasir, Muhammad Shoaib, Salman Akbar Malik, Irfan Ullah   +5 more
doaj   +1 more source

Glomerular Exostosin-Positivity is Associated With Disease Activity and Outcomes in Patients With Membranous Lupus Nephritis

Kidney International Reports
Introduction: The relationship of exostosin 1 and exostosin 2 (EXT1/EXT2) expression and outcomes in membranous lupus nephritis (MLN) was controversial.
Xi Xia, Suchun Li, Zhipeng Wang, Siyang Ye, Yuting Fan, Wenxing Peng, Wenfang Chen, Fengxian Huang, Ruihan Tang, Wei Chen   +9 more
doaj   +1 more source

Regulation of zebrafish skeletogenesis by ext2/dackel and papst1/pinscher. [PDF]

PLoS Genetics, 2008
Mutations in human Exostosin genes (EXTs) confer a disease called Hereditary Multiple Exostoses (HME) that affects 1 in 50,000 among the general population. Patients with HME have a short stature and develop osteochondromas during childhood. Here we show
Aurélie Clément, Malgorzata Wiweger, Sophia von der Hardt, Melissa A Rusch, Scott B Selleck, Chi-Bin Chien, Henry H Roehl   +6 more
doaj   +1 more source

Gene-Function-Based Clusters Explore Intricate Networks of Gene Expression of Circulating Tumor Cells in Patients with Colorectal Cancer

Biomedicines, 2023
Colorectal cancer (CRC) is a complex disease characterized by dynamically deregulated gene expression and crosstalk between signaling pathways. In this study, a new approach based on gene-function-based clusters was introduced to explore the CRC ...
Chi-Shuan Huang, Harn-Jing Terng, Yi-Ting Hwang   +2 more
doaj   +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

The WHO Classification of Genetic Tumour Syndromes: Considerations for Genetics

Clinical Genetics, EarlyView.
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

Understanding bidirectional and transactional relations in parent and offspring mental health: Using COVID‐19 pandemic data to gain insights

JCPP Advances, Volume 6, Issue 2, June 2026.
This study found that parent internalising symptoms predicted internalising symptoms in younger children, with no evidence of child‐driven effects. Among adolescents, mental health symptoms showed bidirectional associations with parent internalising symptoms, particularly for externalising symptoms.
Martha Oakes, Lowrie Hilladakis, Polly Waite, Cathy Creswell, Simona Skripkauskaite   +4 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

The Extracellular Matrix Across States: From Homeostasis to Dysfunction in Rare Connective Tissue Disorders

Proteoglycan Research, Volume 4, Issue 2, April 2026.
ABSTRACT The extracellular matrix (ECM) provides a dynamic environment in which the fine balance between biosynthesis, degradation and/or maturation of matrix components critically governs its structure and function. It is well established that the ECM plays a central role not only in the physiological functions of tissues, but also in the pathogenesis
Roméo M. Diana, Sandrine Gulberti, Catherine Bui   +2 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