(Q34320437)

1 August 2017

title

SNX10 mutations define a subgroup of human autosomal recessive osteopetrosis with variable clinical severity (English)

1 reference

1 August 2017

10

Barbara De Moerloose

0 references

Luigi D Notarangelo

12

object named as

Luigi D Notarangelo

1 reference

1 August 2017

Alessandra Pangrazio

1

1 reference

1 August 2017

Anders Fasth

2

1 reference

1 August 2017

Andrea Sbardellati

3

1 reference

1 August 2017

Paul J Orchard

4

1 reference

1 August 2017

Kimberly A Kasow

5

1 reference

1 August 2017

Jamal Raza

6

1 reference

1 August 2017

Canan Albayrak

7

1 reference

1 August 2017

Davut Albayrak

8

1 reference

1 August 2017

Olivier M Vanakker

9

1 reference

1 August 2017

Ashok Vellodi

11

1 reference

1 August 2017

Claire Schlack

13

1 reference

1 August 2017

Gabriele Strauss

14

1 reference

1 August 2017

Jörn-Sven Kühl

15

1 reference

1 August 2017

Elena Caldana

16

1 reference

1 August 2017

Nadia Lo Iacono

17

1 reference

1 August 2017

Lucia Susani

18

1 reference

1 August 2017

Uwe Kornak

19

1 reference

1 August 2017

Ansgar Schulz

20

1 reference

1 August 2017

Paolo Vezzoni

21

1 reference

1 August 2017

Anna Villa

22

1 reference

1 August 2017

Cristina Sobacchi

23

1 reference

1 August 2017

publication date

1 May 2013

1 reference

Journal of Bone and Mineral Research

1 August 2017

published in

1 reference

1 August 2017

volume

28

1 reference

1 August 2017

issue

5

1 reference

1 August 2017

page(s)

1041-1049

1 reference

The mutational spectrum of human malignant autosomal recessive osteopetrosis

1 August 2017

cites work

1 reference

Genetic analysis of autosomal recessive osteopetrosis in Chuvashiya: the unique splice site mutation in TCIRG1 gene spread by the founder effect.

21 January 2018

1 reference

An SNX10 mutation causes malignant osteopetrosis of infancy

21 January 2018

1 reference

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

21 January 2018

1 reference

Chloride channel ClCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosis

21 January 2018

1 reference

Mutations in OSTM1 (grey lethal) define a particularly severe form of autosomal recessive osteopetrosis with neural involvement

21 January 2018

1 reference

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

21 January 2018

1 reference

Involvement of PLEKHM1 in osteoclastic vesicular transport and osteopetrosis in incisors absent rats and humans

21 January 2018

1 reference

Human osteoclast-poor osteopetrosis with hypogammaglobulinemia due to TNFRSF11A (RANK) mutations

21 January 2018

1 reference

Crystal structure of the yeast Phox homology (PX) domain protein Grd19p complexed to phosphatidylinositol-3-phosphate

21 January 2018

1 reference

Insights into the PX (phox-homology) domain and SNX (sorting nexin) protein families: structures, functions and roles in disease

21 January 2018

1 reference

Sorting nexin 10 induces giant vacuoles in mammalian cells

21 January 2018

1 reference

A single-center experience in 20 patients with infantile malignant osteopetrosis

21 January 2018

1 reference

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

21 January 2018

1 reference

Sorting out the cellular functions of sorting nexins

21 January 2018

1 reference

The genetic structure of the Swedish population

21 January 2018

1 reference

A SNX10/V-ATPase pathway regulates ciliogenesis in vitro and in vivo

21 January 2018

1 reference

Detection of novel skeletogenesis target genes by comprehensive analysis of a Runx2(-/-) mouse model

21 January 2018

1 reference

Osteopetrosis-More than only a disease of the bone

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1002/JBMR.1849

1 reference

1 August 2017

1 reference