Biallelic SLC13A1 loss-of-function variants result in impaired sulfate transport and skeletal phenotypes, including short stature, scoliosis, and skeletal dysplasia

Biallelic SLC13A1 loss-of-function variants result in impaired sulfate transport and skeletal phenotypes, including short stature, scoliosis, and skeletal dysplasia

Purpose: Sulfate is vital for many physiological processes, including the structural and functional maintenance of macromolecules and formation of sulfur-containing compounds essential for cartilage and bone development. SLC13A1 is a sodium-sulfate cotransporter primarily expressed in the kidney, wh...

पूर्ण विवरण

ग्रंथसूची विवरण
मुख्य लेखकों: Christina G. Tise, Katie Ashton, Lachlan de Hayr, Kun-Di Lee, Omkar L. Patkar, Emma Krzesinski, Jennifer A. Bassetti, Erin M. Carter, Cathleen Raggio, Andreas Zankl, Anas M. Khanshour, Kristhen N. Atala, Jonathan J. Rios, Carol A. Wise, Ying Zhu, Futao Zhang, Tony Roscioli, Michael Buckley, Robert J. Harvey, Paul A. Dawson
स्वरूप: लेख
भाषा:English
प्रकाशित: Elsevier 2025-01-01
श्रृंखला:Genetics in Medicine Open
विषय:
Hyposulfatemia
Scoliosis
Short stature
Skeletal dysplasia
Sulfate transporter
ऑनलाइन पहुंच:http://www.sciencedirect.com/science/article/pii/S294977442401104X

इंटरनेट

http://www.sciencedirect.com/science/article/pii/S294977442401104X

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