Cathepsin K analysis in a pycnodysostosis cohort: demographic, genotypic and phenotypic features (Q33615956)

28 July 2017

title

Cathepsin K analysis in a pycnodysostosis cohort: demographic, genotypic and phenotypic features (English)

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28 July 2017

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Serap Turan

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Ahmet Arman

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28 July 2017

Abdullah Bereket

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28 July 2017

Ajda Coker

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28 July 2017

Pelin Özlem Simşek Kiper

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28 July 2017

Tülay Güran

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28 July 2017

Behzat Ozkan

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28 July 2017

Zeynep Atay

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28 July 2017

Teoman Akçay

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28 July 2017

Belma Haliloglu

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28 July 2017

Koray Boduroglu

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28 July 2017

Yasemin Alanay

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28 July 2017

publication date

26 April 2014

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Orphanet Journal of Rare Diseases

28 July 2017

published in

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28 July 2017

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28 July 2017

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Exome sequencing identifies CTSK mutations in patients originally diagnosed as intermediate osteopetrosis.

28 July 2017

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A child with bone fractures and dysmorphic features: remember of pycnodysostosis and craniosynostosis

21 June 2018

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Alu elements: know the SINEs

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Clinical and animal research findings in pycnodysostosis and gene mutations of cathepsin K from 1996 to 2011

21 June 2018

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21 June 2018

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21 June 2018

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21 June 2018

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Alu-containing exons are alternatively spliced

21 June 2018

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Pycnodysostosis: clinical, radiologic, and endocrine evaluation and linear growth after growth hormone therapy

21 June 2018

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Novel mutations of the cathepsin K gene in patients with pycnodysostosis and their characterization

21 June 2018

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Alu repeats and human disease

21 June 2018

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The crystal structure of human procathepsin K

21 June 2018

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Autocatalytic activation of human cathepsin K.

21 June 2018

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Structure and chromosomal assignment of the human cathepsin K gene

21 June 2018

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Sequence patterns indicate an enzymatic involvement in integration of mammalian retroposons

21 June 2018

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Pycnodysostosis, a lysosomal disease caused by cathepsin K deficiency

21 June 2018

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Proteolytic activity of human osteoclast cathepsin K. Expression, purification, activation, and substrate identification

21 June 2018

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The gene for pycnodysostosis maps to human chromosome 1cen–q21

21 June 2018

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Linkage of pycnodysostosis to chromosome 1q21 by homozygosity mapping

21 June 2018

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A simple salting out procedure for extracting DNA from human nucleated cells

21 June 2018

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An insertion/deletion polymorphism in the angiotensin I-converting enzyme gene accounting for half the variance of serum enzyme levels

21 June 2018

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A novel mutation in two families with pycnodysostosis

21 June 2018

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Does angiotensin-converting enzyme gene polymorphism affect blood pressure? Findings after 6 years of follow-up in healthy subjects

21 January 2018

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Association between a deletion polymorphism of the angiotensin-converting-enzyme gene and left ventricular hypertrophy.

21 January 2018

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Pycnodysostosis with craniosynostosis: case report of the craniofacial and oral features

21 January 2018

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Craniosynostosis: A rare complication of pycnodysostosis

21 January 2018

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Craniosynostosis in pycnodysostosis: broadening the spectrum of the cranial flat bone abnormalities

21 January 2018

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Human cathepsin K cleaves native type I and II collagens at the N-terminal end of the triple helix

21 January 2018

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Insertion/deletion polymorphism of the ACE gene is associated with type 2 diabetes

30 October 2018

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12 December 2020

2 cases of a condensing osseous disease: pynodysostosis

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12 December 2020

Role of poly(A) tail length in Alu retrotransposition

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12 December 2020

High bone mineral density in pycnodysostotic patients with a novel mutation in the propeptide of cathepsin K

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12 December 2020

Molecular analysis and characterization of nine novel CTSK mutations in twelve patients affected by pycnodysostosis. Mutation in brief #961. Online

1 reference

12 December 2020

Identifiers

DOI

10.1186/1750-1172-9-60

1 reference

Dimensions Publication ID

28 July 2017

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28 July 2017

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