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1986 1
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Approach to the Child with Hypercalcaemia.
Davies JH. Davies JH. Endocr Dev. 2015;28:101-118. doi: 10.1159/000380998. Epub 2015 Jun 12. Endocr Dev. 2015. PMID: 26138838 Review.
Gene cloning to clinical trials-the trials and tribulations of a life with collagen.
Boot-Handford RP. Boot-Handford RP. Int J Exp Pathol. 2019 Feb;100(1):4-11. doi: 10.1111/iep.12311. Epub 2019 Mar 26. Int J Exp Pathol. 2019. PMID: 30912609 Free PMC article. Review.
This review, based on the BSMB Fell-Muir Lecture I presented in July 2018 at the Matrix Biology Europe Conference in Manchester, gives a personal perspective of my own laboratory's contributions to research into type X collagen, metaphyseal chondrodysplasia type Sch …
This review, based on the BSMB Fell-Muir Lecture I presented in July 2018 at the Matrix Biology Europe Conference in Manchester, gives a per …
The effect of carbamazepine on bone structure and strength in control and osteogenesis imperfecta (Col1a2 +/p.G610C ) mice.
Blank M, McGregor NE, Rowley L, Kung LHW, Crimeen-Irwin B, Poulton IJ, Walker EC, Gooi JH, Lamandé SR, Sims NA, Bateman JF. Blank M, et al. J Cell Mol Med. 2022 Jul;26(14):4021-4031. doi: 10.1111/jcmm.17437. Epub 2022 Jun 14. J Cell Mol Med. 2022. PMID: 35701367 Free PMC article.
Since carbamazepine (CBZ) both stimulates autophagy of misfolded collagen X and improves skeletal pathology in a metaphyseal chondrodysplasia model, we tested the effect of CBZ on bone structure and strength in 3-week-old male OI Col1a2 (+/p.G610C) and control mice. …
Since carbamazepine (CBZ) both stimulates autophagy of misfolded collagen X and improves skeletal pathology in a metaphyseal chond …
Carbamazepine reduces disease severity in a mouse model of metaphyseal chondrodysplasia type Schmid caused by a premature stop codon (Y632X) in the Col10a1 gene.
Forouhan M, Sonntag S, Boot-Handford RP. Forouhan M, et al. Hum Mol Genet. 2018 Nov 15;27(22):3840-3853. doi: 10.1093/hmg/ddy253. Hum Mol Genet. 2018. PMID: 30010889 Free PMC article.
Mutations, mostly in the region of the COL10A1 gene encoding the C-terminal non-collagenous domain, cause the dwarfism metaphyseal chondrodysplasia type Schmid (MCDS). In most cases, the disease mechanism involves the misfolding of the mutant protein causing increas …
Mutations, mostly in the region of the COL10A1 gene encoding the C-terminal non-collagenous domain, cause the dwarfism metaphyseal …
Potential effects of alendronate on fibroblast growth factor 23 levels and effective control of hypercalciuria in an adult with Jansen's metaphyseal chondrodysplasia.
Onuchic L, Ferraz-de-Souza B, Mendonca BB, Correa PH, Martin RM. Onuchic L, et al. J Clin Endocrinol Metab. 2012 Apr;97(4):1098-103. doi: 10.1210/jc.2011-3082. Epub 2012 Jan 25. J Clin Endocrinol Metab. 2012. PMID: 22278430
CONTEXT: Jansen's metaphyseal chondrodysplasia (JMC) is a rare autosomal dominant disorder caused by activating mutations in the PTH 1 receptor (PTH1R; PTH/PTHrP receptor), leading to chronic hypercalcemia and hypercalciuria. ...
CONTEXT: Jansen's metaphyseal chondrodysplasia (JMC) is a rare autosomal dominant disorder caused by activating mutations in t …
An effective case of growth hormone treatment on cartilage-hair hypoplasia.
Harada D, Yamanaka Y, Ueda K, Shimizu J, Inoue M, Seino Y, Tanaka H. Harada D, et al. Bone. 2005 Feb;36(2):317-22. doi: 10.1016/j.bone.2004.08.005. Bone. 2005. PMID: 15780958
Cartilage-hair hypoplasia (CHH) is an autosomal recessive metaphyseal chondrodysplasia characterized by severe short-limb short stature and hypoplastic hair. ...
Cartilage-hair hypoplasia (CHH) is an autosomal recessive metaphyseal chondrodysplasia characterized by severe short-limb shor …
Growth hormone treatment in cartilage-hair hypoplasia: effects on growth and the immune system.
Bocca G, Weemaes CM, van der Burgt I, Otten BJ. Bocca G, et al. J Pediatr Endocrinol Metab. 2004 Jan;17(1):47-54. doi: 10.1515/jpem.2004.17.1.47. J Pediatr Endocrinol Metab. 2004. PMID: 14960021 Clinical Trial.
Cartilage-hair hypoplasia (CHH) is a rare autosomal recessive disorder characterized by metaphyseal chondrodysplasia with severe growth retardation and impaired immunity. ...
Cartilage-hair hypoplasia (CHH) is a rare autosomal recessive disorder characterized by metaphyseal chondrodysplasia with seve …
Effectiveness of anastrozole and cyproterone acetate in two brothers with familial male precocious puberty.
Eyssette-Guerreau S, Pinto G, Sultan A, Le Merrer M, Sultan C, Polak M. Eyssette-Guerreau S, et al. J Pediatr Endocrinol Metab. 2008 Oct;21(10):995-1002. doi: 10.1515/jpem.2008.21.10.995. J Pediatr Endocrinol Metab. 2008. PMID: 19209621
Symptoms include rapid virilization, accelerated growth and reduced adult height. We describe a rare association of testotoxicosis with a metaphyseal chondrodysplasia called cartilage-hair hypoplasia (CHH) and report two brothers with testotoxicosis after 4 years of …
Symptoms include rapid virilization, accelerated growth and reduced adult height. We describe a rare association of testotoxicosis with a …
Tracheobronchomalacia in an adult with metaphyseal chondrodysplasia.
Takkunen O, Cozanitis D, Halttunen P, Kaitila I. Takkunen O, et al. Ann Fr Anesth Reanim. 1986;5(5):527-9. doi: 10.1016/S0750-7658(86)80040-5. Ann Fr Anesth Reanim. 1986. PMID: 3813148
This report concerns a case in which tracheal collapse due to tracheobronchial malacia in an adult patient with metaphyseal chondrodysplasia evidently caused severe ventilatory difficulties in the induction of anaesthesia. ...
This report concerns a case in which tracheal collapse due to tracheobronchial malacia in an adult patient with metaphyseal chondr …