Hedgehog signal and genetic disorders

N Sasai, M Toriyama, T Kondo - Frontiers in Genetics, 2019 - frontiersin.org
The hedgehog (Hh) family comprises sonic hedgehog (Shh), Indian hedgehog (Ihh), and
desert hedgehog (Dhh), which are versatile signaling molecules involved in a wide …

Updates on the cytogenetics and molecular genetics of bone and soft tissue tumors: osteosarcoma and related tumors

AA Sandberg, JA Bridge - Cancer genetics and cytogenetics, 2003 - Elsevier
In this Update, the cytogenetic and molecular genetic findings in osteosarcoma (OS) and
some related tumors published since our book appeared in 1994 [1] will be presented and …

[LIBRO][B] Tachdjian's Pediatric Orthopaedics: From the Texas Scottish Rite Hospital for Children: 2-Volume Set

JA Herring - 2020 - books.google.com
With complete coverage appropriate for residents through experienced pediatric
orthopaedic surgeons, Tachdjian's Pediatric Orthopaedics, 6th Edition, continues a 50-year …

The putative tumor suppressors EXT1 and EXT2 form a stable complex that accumulates in the Golgi apparatus and catalyzes the synthesis of heparan sulfate

C McCormick, G Duncan… - Proceedings of the …, 2000 - National Acad Sciences
Hereditary multiple exostoses, a dominantly inherited genetic disorder characterized by
multiple cartilaginous tumors, is caused by mutations in members of the EXT gene family …

Structural basis for heparan sulfate co-polymerase action by the EXT1–2 complex

H Li, D Chapla, RA Amos, A Ramiah… - Nature chemical …, 2023 - nature.com
Heparan sulfate (HS) proteoglycans are extended (-GlcAβ1, 4GlcNAcα1, 4-) n co-polymers
containing decorations of sulfation and epimerization that are linked to cell surface and …

The putative tumour suppressor EXT1 alters the expression of cell-surface heparan sulfate

C McCormick, Y Leduc, D Martindale, K Mattison… - Nature …, 1998 - nature.com
Hereditary multiple exostoses (HME) is an autosomal dominant disorder characterized by
the formation of cartilage-capped tumours (exostoses) that develop from the growth plate of …

The concise handbook of family cancer syndromes

NM Lindor, MH Greene… - JNCI: Journal of the …, 1998 - academic.oup.com
Some details are inevitably lost when attempting to simplify subjects involving complex
medical genetics subjects. However, unless an attempt is made to distill such topics, busy …

Structure of the human heparan sulfate polymerase complex EXT1-EXT2

F Leisico, J Omeiri, C Le Narvor, J Beaudouin… - Nature …, 2022 - nature.com
Heparan sulfates are complex polysaccharides that mediate the interaction with a broad
range of protein ligands at the cell surface. A key step in heparan sulfate biosynthesis is …

Molecular basis of multiple exostoses: mutations in the EXT1 and EXT2 genes

W Wuyts, W Van Hul - Human mutation, 2000 - Wiley Online Library
Hereditary multiple exostoses (EXT) is an autosomal dominant disorder characterized by the
formation of exostoses, which are cartilage‐capped bony protuberances mainly located on …

Manifestations of hereditary multiple exostoses

JR Stieber, JP Dormans - … -Journal of the American Academy of …, 2005 - journals.lww.com
The solitary osteochondroma, a common pediatric bone tumor, is a cartilage-capped
exostosis. Hereditary multiple exostosis is an autosomal dominant disorder manifested by …