Results 51 to 60 of about 3,991 (155)

Clinical and Genetic Significance of Chromosomal Microarray Screening of Asymptomatic Newborns

Journal of Clinical Laboratory Analysis, Volume 40, Issue 3, February 2026.
Among 99 asymptomatic newborns with abnormal low‐resolution chromosomal microarray (LR‐CMA) screening, 70.7% harbored microduplication/microdeletions with syndromic implications. However, only a minority exhibited developmental concerns during early follow‐up, highlighting the need for cautious interpretation.
Naye Choi, Hwa Young Kim, Jung Min Ko
wiley   +1 more source

A genotype-phenotype study of hereditary multiple exostoses in forty-six Chinese patients

BMC Medical Genetics, 2017
Background Hereditary multiple exostoses (HME) is a rare autosomal dominant skeletal disorder that can cause a variety of clinical manifestations.
Yuchan Li, Jian Wang, Zhigang Wang, Jingyan Tang, Tingting Yu   +4 more
doaj   +1 more source

Hereditary Multiple Exostoses: Clinical, Molecular and Radiologic Survey in 9 Families

Prague Medical Report, 2017
Hereditary multiple exostoses (HME) represents a heterogeneous group of diseases often associated with progressive skeletal deformities. Most frequently, mutations in EXT1 and EXT2 genes with autosomal dominant inheritance are responsible for HME. In our
Karel Medek, Jiří Zeman, Tomáš Honzík, Hana Hansíková, Štěpánka Švecová, Kamila Beránková, Vendula Kučerová Vidrová, Miloslav Kuklík, Jiří Chomiak, Markéta Tesařová   +9 more
doaj   +1 more source

Multiple Hereditary Exostoses: Report of an EXT2 Gene Mutation in a Colombian Family [PDF]

Journal of Pediatric Genetics, 2018
AbstractMultiple hereditary exostoses (MHE) is a rare disease with autosomal dominant inheritance, caused by heterozygous germline mutations in the EXT1 or EXT2 genes. This disorder is characterized by the growth of prominences surrounded by cartilage in the growth plates and the long bones. Here, we report a family affected by MHE.
Jhon, Camacho, Luz Dary, Gutierrez, Cladelis, Rubio, Alfonso, Suárez, Angie, Amaya   +4 more
openaire   +2 more sources

Distinct Molecular and Prognostic Profiles of Left‐ and Right‐Sided Colorectal Cancer Revealed by NGS Analysis: The Role of SMAD4 and SETD2 Mutations

Cancer Medicine, Volume 15, Issue 1, January 2026.
ABSTRACT Background Colorectal cancer (CRC) isthe third most common cancer and the second leading cause of cancer‐relateddeath worldwide. Its genetic heterogeneity complicates treatment. This studyaimed to compare clinicopathological, molecular, and prognostic factors betweenleft‐sided (LCC) and right‐sided (RCC) CRC.
Wenlei Zhao, Yuxuan Qiu, Na Bai, Chunhong He, Jiani C. Yin, Qianru Xu, Kaiyu Jian, Baolei Jia, Lin Jiang, Feng Liang   +9 more
wiley   +1 more source

Hereditary Multiple Exostoses—A Review of the Molecular Background, Diagnostics, and Potential Therapeutic Strategies

Frontiers in Genetics, 2021
Hereditary multiple exostoses (HMEs) syndrome, also known as multiple osteochondromas, represents a rare and severe human skeletal disorder. The disease is characterized by multiple benign cartilage-capped bony outgrowths, termed exostoses or ...
Ewelina Bukowska-Olech, Wiktoria Trzebiatowska, Wiktor Czech, Olga Drzymała, Piotr Frąk, Franciszek Klarowski, Piotr Kłusek, Anna Szwajkowska, Aleksander Jamsheer, Aleksander Jamsheer   +9 more
doaj   +1 more source

MMP2 Sheds Glypican‐4 to Suppress Slit3‐Robo4 Signaling and Angiogenesis

Proteoglycan Research, Volume 4, Issue 1, January 2026.
ABSTRACT Axon guidance molecules, initially identified for their roles in neural development, are now recognized as crucial regulators of angiogenesis and blood vessel patterning. Among these, Slit3 promotes endothelial cell migration, proliferation, and vascular network formation by signaling through the endothelial‐specific receptor Robo4.
Wenyuan Xiao, Alexander R. Orta, Jingwen Yue, Xuehong Song, Huquan Yin, Lianchun Wang   +5 more
wiley   +1 more source

Novel mutation of EXT2 identified in a large family with multiple osteochondromas

Molecular Medicine Reports, 2016
Multiple osteochondromas (MO), also known as hereditary multiple exostoses, is an autosomal dominant bone disorder. Mutations in exostosin glycosyl transferase‑1 (EXT1) and exostosin glycosyl transferase‑2 (EXT2), including missense, nonsense, frameshift and splice‑site mutations, account for up to 80% of reported cases. The proteins EXT1 and EXT2 form
Chen, Xiao-Jun, Zhang, Hong, Tan, Zhi-Ping, Hu, Wen, Yang, Yi-Feng   +4 more
openaire   +3 more sources

The EXT1/EXT2 tumor suppressors: catalytic activities and role in heparan sulfate biosynthesis [PDF]

EMBO reports, 2000
The D‐glucuronyltransferase and N‐acetyl‐D‐glucosaminyltransferase reactions in heparan sulfate biosynthesis have been associated with two genes, EXT1 and EXT2, which are also implicated in the inherited bone disorder, multiple exostoses. Since the cell systems used to express recombinant EXT proteins synthesize endogenous heparan sulfate, and the EXT ...
C, Senay, T, Lind, K, Muguruma, Y, Tone, H, Kitagawa, K, Sugahara, K, Lidholt, U, Lindahl, M, Kusche-Gullberg   +8 more
openaire   +2 more sources

Multiple Osteochondromas: Clinicopathological and Genetic Spectrum and Suggestions for Clinical Management

Hereditary Cancer in Clinical Practice, 2004
Multiple Osteochondromas is an autosomal dominant disorder characterised by the presence of multiple osteochondromas and a variety of orthopaedic deformities.
Hameetman Liesbeth, Bovée Judith VMG, Taminiau Antonie HM, Kroon Herman M, Hogendoorn Pancras CW   +4 more
doaj   +1 more source