Ablation of Enpp6 Results in Transient Bone Hypomineralization

Autor: Scott Dillon, Karla Suchacki, Shun‐Neng Hsu, Louise A Stephen, Rongling Wang, William P Cawthorn, Alan J Stewart, Fabio Nudelman, Nicholas M Morton, Colin Farquharson

Publikováno v: JBMR Plus, Vol 5, Iss 2, Pp n/a-n/a (2021)

ABSTRACT Biomineralization is a fundamental process key to the development of the skeleton. The phosphatase orphan phosphatase 1 (PHOSPHO1), which likely functions within extracellular matrix vesicles, has emerged as a critical regulator of biominera

Externí odkaz: https://doaj.org/article/a5a5889ab84443e18ecd1ba4f5fff0b4

TALPID3 controls centrosome and cell polarity and the human ortholog KIAA0586 is mutated in Joubert syndrome (JBTS23)

Autor: Louise A Stephen, Hasan Tawamie, Gemma M Davis, Lars Tebbe, Peter Nürnberg, Gudrun Nürnberg, Holger Thiele, Michaela Thoenes, Eugen Boltshauser, Steffen Uebe, Oliver Rompel, André Reis, Arif B Ekici, Lynn McTeir, Amy M Fraser, Emma A Hall, Pleasantine Mill, Nicolas Daudet, Courtney Cross, Uwe Wolfrum, Rami Abou Jamra, Megan G Davey, Hanno J Bolz

Publikováno v: eLife, Vol 4 (2015)

Joubert syndrome (JBTS) is a severe recessive neurodevelopmental ciliopathy which can affect several organ systems. Mutations in known JBTS genes account for approximately half of the cases. By homozygosity mapping and whole-exome sequencing, we iden

Externí odkaz: https://doaj.org/article/130e0f92665342b789f080b99454ab95

Increased PHOSPHO1 and alkaline phosphatase expression during the anabolic bone response to intermittent parathyroid hormone delivery

Autor: Dean A. Houston, Louise A. Stephen, Soher N. Jayash, Katherine Myers, Kirsty Little, Mark Hopkinson, Andrew A. Pitsillides, Vicky E. MacRae, Jose Luis Millan, Katherine A. Staines, Colin Farquharson

Publikováno v: Cell Biochemistry and Function. 41:189-201

The administration of intermittent parathyroid hormone (iPTH) is anabolic to the skeleton. Recent studies with cultured osteoblasts have revealed that the expression of PHOSPHO1, a bone-specific phosphatase essential for the initiation of mineralisat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9980129c74d7ff8406be9f785e25fbb7
https://doi.org/10.1002/cbf.3772

Increased Phospho1 Expression Mediates Cortical Bone Mineral Density in Renal Osteodystrophy

Autor: Shun-Neng Hsu, Louise A Stephen, Scott Dillon, Elspeth Milne, Behzad Javaheri, Andrew A Pitsillides, Amanda Novak, Jose Luis Millán, Vicky E Macrae, Katherine A Staines, Colin Farquharson

Publikováno v: Hsu, S-N, Stephen, L, Dillon, S, Milne, E, Javaheri, B, Pitsillides, A A, Novak, A, Millán, J L, MacRae, V, Staines, K & Farquharson, C 2022, ' Increased PHOSPHO1 expression mediates cortical bone mineral density in renal osteodystrophy ', Journal of Endocrinology, vol. 254, no. 3, pp. 153-167 . https://doi.org/10.1530/JOE-22-0097

Patients with advanced chronic kidney disease (CKD) often present with skeletal abnormalities; a condition known as renal osteodystrophy (ROD). While Tissue-nonspecific alkaline phosphatase (TNAP) and PHOSPHO1 are recognized to be critical for bone m

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2f353610040db8919dce98300243b593
https://doi.org/10.2139/ssrn.4069614

The role of miR-29 family in disease

Autor: Louise A. Stephen, Masahiro Horita, Colin Farquharson

Publikováno v: Journal of Cellular Biochemistry
Horita, M, Farquharson, C & Stephen, L 2021, ' The role of miR-29 family in disease ', Journal of cellular biochemistry . https://doi.org/10.1002/jcb.29896

MicroRNAs are small noncoding RNAs that can bind to the target sites in the 3’‐untranslated region of messenger RNA to regulate posttranscriptional gene expression. Increasing evidence has identified the miR‐29 family, consisting of miR‐29a,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::70eb9e2dafbc2a34333b35e4bff3b123
https://pubmed.ncbi.nlm.nih.gov/33529442