(Q34416395)

2 August 2017

title

TCIRG1-associated congenital neutropenia (English)

1 reference

2 August 2017

14

Gail P Jarvik

0 references

Jennifer Elizabeth Below

object named as

Jennifer E Below

5

0 references

Deborah A Nickerson

13

object named as

Deborah A Nickerson

1 reference

2 August 2017

Vahagn Makaryan

1

1 reference

2 August 2017

Elisabeth A Rosenthal

2

1 reference

2 August 2017

Audrey Anna Bolyard

3

1 reference

2 August 2017

Merideth L Kelley

4

1 reference

2 August 2017

Michael J Bamshad

6

1 reference

2 August 2017

Kathryn M Bofferding

7

1 reference

2 August 2017

Joshua D Smith

8

1 reference

2 August 2017

Kati Buckingham

9

1 reference

2 August 2017

Laurence A Boxer

10

1 reference

2 August 2017

Julia Skokowa

11

1 reference

2 August 2017

Karl Welte

12

1 reference

2 August 2017

David C Dale

15

1 reference

2 August 2017

UW Center for Mendelian Genomics

16

1 reference

2 August 2017

publication date

21 May 2014

1 reference

2 August 2017

1 reference

2 August 2017

volume

35

1 reference

2 August 2017

issue

7

1 reference

2 August 2017

page(s)

824-827

1 reference

RNAi-mediated silencing of Atp6i and Atp6i haploinsufficiency prevents both bone loss and inflammation in a mouse model of periodontal disease

2 August 2017

cites work

1 reference

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6 July 2018

1 reference

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CXCR2 and CXCR4 antagonistically regulate neutrophil trafficking from murine bone marrow

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4055522

A method and server for predicting damaging missense mutations

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4055522

Novel genetic etiologies of severe congenital neutropenia

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4055522

Prevalence of mutations in ELANE, GFI1, HAX1, SBDS, WAS and G6PC3 in patients with severe congenital neutropenia

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4055522

V-ATPase functions in normal and disease processes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4055522

Sorting, recognition and activation of the misfolded protein degradation pathways through macroautophagy and the proteasome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4055522

Characterization of vacuolar-ATPase and selective inhibition of vacuolar-H(+)-ATPase in osteoclasts

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4055522

HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease)

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4055522

Osteoclasts degrade endosteal components and promote mobilization of hematopoietic progenitor cells

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4055522

ERAD: the long road to destruction

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4055522

Evolutionarily conserved elements in vertebrate, insect, worm, and yeast genomes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4055522

Identification of new alternative splice events in the TCIRG1 gene in different human tissues

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4055522

TCIRG1-dependent recessive osteopetrosis: mutation analysis, functional identification of the splicing defects, and in vitro rescue by U1 snRNA

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4055522

Osteoblastic cells regulate the haematopoietic stem cell niche

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4055522

Infantile genetic agranulocytosis; agranulocytosis infantilis hereditaria

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4055522

Arg-735 of the 100-kDa subunit a of the yeast V-ATPase is essential for proton translocation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4055522

The mutational spectrum of human malignant autosomal recessive osteopetrosis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4055522

Infantile genetic agranulocytosis, morbus Kostmann: presentation of six cases from the original "Kostmann family" and a review

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4055522

Degradation of mutant proteins, underlying "loss of function" phenotypes, plays a major role in genetic disease.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4055522

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4055522

Mutations in ELA2, encoding neutrophil elastase, define a 21-day biological clock in cyclic haematopoiesis.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4055522

Genomic organization of the gene coding for TIRC7, a novel membrane protein essential for T cell activation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4055522

Prevention of acute allograft rejection by antibody targeting of TIRC7, a novel T cell membrane protein

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4055522

The V-ATPase a3 subunit mutation R740S is dominant negative and results in osteopetrosis in mice

6 July 2018

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FHUMU.22563

Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4055522

Activation of proton pumping in human neutrophils occurs by exocytosis of vesicles bearing vacuolar-type H+-ATPases

27 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24753205

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Osteoblast-specific knockout of the insulin-like growth factor (IGF) receptor gene reveals an essential role of IGF signaling in bone matrix mineralization

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24753205

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1002/HUMU.22563

1 reference

2 August 2017

1 reference

2 August 2017

1 reference