(Q46286844)

21 December 2017

title

CLCN7 and TCIRG1 mutations differentially affect bone matrix mineralization in osteopetrotic individuals (English)

1 reference

21 December 2017

author

Thomas Jentsch

15

1 reference

21 December 2017

Andrea Del Fattore

Andrea Del Fattore

14

0 references

Ingo Kurth

Ingo Kurth

2

0 references

Anna Teti

Anna Teti

16

0 references

Thorsten Schinke

18

Thorsten Schinke

1 reference

21 December 2017

Ansgar Schulz

17

Ansgar Schulz

1 reference

21 December 2017

Uwe Kornak

13

Uwe Kornak

1 reference

21 December 2017

Florian Barvencik

1

Florian Barvencik

1 reference

21 December 2017

Jozef Zustin

5

Jozef Zustin

1 reference

21 December 2017

Michael Amling

19

Michael Amling

1 reference

21 December 2017

author name string

Till Koehne

3

1 reference

21 December 2017

Tobias Stauber

4

1 reference

21 December 2017

Konstantinos Tsiakas

6

1 reference

21 December 2017

Carmen F Ludwig

7

1 reference

21 December 2017

F Timo Beil

8

1 reference

21 December 2017

Jan M Pestka

9

1 reference

21 December 2017

Michael Hahn

10

1 reference

21 December 2017

Rene Santer

11

1 reference

21 December 2017

Chayarop Supanchart

12

1 reference

21 December 2017

publication date

1 April 2014

1 reference

21 December 2017

Journal of Bone and Mineral Research

published in

1 reference

21 December 2017

volume

29

1 reference

21 December 2017

issue

4

1 reference

21 December 2017

page(s)

982-991

1 reference

21 December 2017

Genetics, pathogenesis and complications of osteopetrosis.

cites work

1 reference

Infantile malignant, autosomal recessive osteopetrosis: the rich and the poor

21 January 2018

1 reference

New knowledge on critical osteoclast formation and activation pathways from study of rare genetic diseases of osteoclasts: focus on the RANK/RANKL axis.

21 January 2018

1 reference

An SNX10 mutation causes malignant osteopetrosis of infancy

21 January 2018

1 reference

The mutational spectrum of human malignant autosomal recessive osteopetrosis

21 January 2018

1 reference

Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis

21 January 2018

1 reference

Mutations in the a3 subunit of the vacuolar H(+)-ATPase cause infantile malignant osteopetrosis

21 January 2018

1 reference

Advances in osteoclast biology: old findings and new insights from mouse models

21 January 2018

1 reference

Atp6i-deficient mice exhibit severe osteopetrosis due to loss of osteoclast-mediated extracellular acidification.

21 January 2018

1 reference

Impaired gastric acidification negatively affects calcium homeostasis and bone mass.

21 January 2018

1 reference

Loss of the ClC-7 chloride channel leads to osteopetrosis in mice and man

21 January 2018

1 reference

Lysosomal pathology and osteopetrosis upon loss of H+-driven lysosomal Cl- accumulation

21 January 2018

1 reference

ClC-7 is a slowly voltage-gated 2Cl(-)/1H(+)-exchanger and requires Ostm1 for transport activity

21 January 2018

1 reference

ClC-7 requires Ostm1 as a beta-subunit to support bone resorption and lysosomal function

21 January 2018

1 reference

Severe developmental bone phenotype in ClC-7 deficient mice

21 January 2018

1 reference

Molecular and clinical heterogeneity in CLCN7-dependent osteopetrosis: report of 20 novel mutations.

21 January 2018

1 reference

Sorting motifs of the endosomal/lysosomal CLC chloride transporters

21 January 2018

1 reference

Subclinical vitamin-D deficiency following gastric surgery. Histological evidence in bone

21 January 2018

1 reference

Impaired bone mineralization accompanied by low vitamin D and secondary hyperparathyroidism in patients with femoral neck fracture

21 January 2018

1 reference

Standardized nomenclature, symbols, and units for bone histomorphometry: a 2012 update of the report of the ASBMR Histomorphometry Nomenclature Committee

21 January 2018

1 reference

Osteopetrosis, osteopetrorickets and hypophosphatemic rickets differentially affect dentin and enamel mineralization.

21 January 2018

1 reference

X-ray structure of a ClC chloride channel at 3.0 A reveals the molecular basis of anion selectivity

21 January 2018

1 reference

An aspartic acid residue important for voltage-dependent gating of human muscle chloride channels

21 January 2018

1 reference

Proof of a non-functional muscle chloride channel in recessive myotonia congenita (Becker) by detection of a 4 base pair deletion

21 January 2018

1 reference

Advances in osteoclast biology resulting from the study of osteopetrotic mutations.

21 January 2018

1 reference

Normative data for iliac bone histomorphometry in growing children.

21 January 2018

1 reference

Bone mineralization density distribution in health and disease.

21 January 2018

1 reference

Abnormal gastric histology and decreased acid production in cholecystokinin-B/gastrin receptor-deficient mice.

21 January 2018

1 reference

The G215R mutation in the Cl-/H+-antiporter ClC-7 found in ADO II osteopetrosis does not abolish function but causes a severe trafficking defect

21 January 2018

1 reference

Inward rectification in ClC-0 chloride channels caused by mutations in several protein regions

21 January 2018

1 reference

Osteoclasts and hematopoiesis

21 January 2018

1 reference

Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL.

21 January 2018

1 reference

Recalcitrant osteomyelitis following tooth extraction in a case of malignant osteopetrosis

21 January 2018

1 reference

Osteomyelitis of the mandible secondary to infantile osteopetrosis: a case report.

21 January 2018

1 reference

Osteopetrosis: genetics, treatment and new insights into osteoclast function.

21 January 2018

1 reference

Induction of bone resorption by parathyroid hormone in congenital malignant osteopetrosis

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1002/JBMR.2100

1 reference

21 December 2017

1 reference

21 December 2017