(Q24310602)

cellular response to osmotic stress

GOA release 2020-03-11

1 reference

Serine (or cysteine) peptidase inhibitor, clade B, member 6a

GOA release 2020-03-11

1 reference

sensorineural hearing loss

GOA release 2020-03-11

hearing loss

1 reference

based on heuristic

inferred from title

1 reference

19

Mary-Claire King

Mary-Claire

King

1 reference

19 October 2023

Moien Kanaan

18

Moien

Kanaan

1 reference

19 October 2023

Mustafa Tekin

25

Mustafa

Tekin

1 reference

19 October 2023

23

Stephan Zuchner

Stephan

Zuchner

1 reference

19 October 2023

Asli Sirmaci

1

Asli

Sirmaci

1 reference

19 October 2023

Seyra Erbek

2

Seyra

Erbek

1 reference

19 October 2023

Justin Price

3

Justin

Price

1 reference

19 October 2023

Mingqian Huang

4

Mingqian

Huang

1 reference

19 October 2023

Duygu Duman

5

Duygu

Duman

1 reference

19 October 2023

F Başak Cengiz

6

F Başak

Cengiz

1 reference

19 October 2023

Güney Bademci

7

Güney

Bademci

1 reference

19 October 2023

Suna Tokgöz-Yilmaz

8

Suna

Tokgöz-Yilmaz

1 reference

19 October 2023

Burcu Hişmi

9

Burcu

Hişmi

1 reference

19 October 2023

Hilal Ozdağ

10

Hilal

Ozdağ

1 reference

19 October 2023

Banu Oztürk

11

Banu

Oztürk

1 reference

19 October 2023

Sevsen Kulaksizoğlu

12

Sevsen

Kulaksizoğlu

1 reference

19 October 2023

Erkan Yildirim

13

Erkan

Yildirim

1 reference

19 October 2023

Haris Kokotas

14

Haris

Kokotas

1 reference

19 October 2023

Maria Grigoriadou

15

Maria

Grigoriadou

1 reference

19 October 2023

Michael B Petersen

16

Michael B

Petersen

1 reference

19 October 2023

Hashem Shahin

17

Hashem

Shahin

1 reference

19 October 2023

Zheng-Yi Chen

20

Zheng-Yi

Chen

1 reference

19 October 2023

Susan H Blanton

21

Susan H

Blanton

1 reference

19 October 2023

Xue Z Liu

22

Xue Z

Liu

1 reference

19 October 2023

Nejat Akar

24

Nejat

Akar

1 reference

American Journal of Human Genetics

19 October 2023

language of work or name

English

0 references

publication date

14 May 2010

0 references

published in

0 references

volume

86

0 references

issue

5

0 references

page(s)

797-804

0 references

cites work

Mutations in LOXHD1, an evolutionarily conserved stereociliary protein, disrupt hair cell function in mice and cause progressive hearing loss in humans

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2869020

An intracellular serpin regulates necrosis by inhibiting the induction and sequelae of lysosomal injury

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2869020

SerpinB6 is an inhibitor of kallikrein-8 in keratinocytes

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2869020

PLINK: a tool set for whole-genome association and population-based linkage analyses

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2869020

Essential role of retinoblastoma protein in mammalian hair cell development and hearing

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2869020

From flies' eyes to our ears: mutations in a human class III myosin cause progressive nonsyndromic hearing loss DFNB30

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2869020

Structure of a serpin-protease complex shows inhibition by deformation

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2869020

The intracellular granzyme B inhibitor, proteinase inhibitor 9, is up-regulated during accessory cell maturation and effector cell degranulation, and its overexpression enhances CTL potency

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2869020

Identification and purification of a novel serine proteinase inhibitor

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2869020

Mutations in the gene encoding pejvakin, a newly identified protein of the afferent auditory pathway, cause DFNB59 auditory neuropathy

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2869020

PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2869020

The serpins are an expanding superfamily of structurally similar but functionally diverse proteins. Evolution, mechanism of inhibition, novel functions, and a revised nomenclature

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2869020

Diverse expression patterns of LIM-homeodomain transcription factors (LIM-HDs) in mammalian inner ear development

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2869020

Newborn hearing screening--a silent revolution

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2869020

Caspases, the enemy within, and their role in oxidative stress-induced apoptosis of inner ear sensory cells.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2869020

The intracellular serpin proteinase inhibitor 6 is expressed in monocytes and granulocytes and is a potent inhibitor of the azurophilic granule protease, cathepsin G.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2869020

Selective regulation of apoptosis: the cytotoxic lymphocyte serpin proteinase inhibitor 9 protects against granzyme B-mediated apoptosis without perturbing the Fas cell death pathway

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2869020

What do dysfunctional serpins tell us about molecular mobility and disease?

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2869020

Genetic epidemiology of hearing impairment

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2869020

Proteinase inhibitor 6 cannot be secreted, which suggests it is a new type of cellular serpin

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2869020

Involvement of lysosomes in the early stages of axon degeneration

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2869020

Frequency of mtDNA A1555G and A7445G mutations among children with prelingual deafness in Turkey

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2869020

Exact genetic linkage computations for general pedigrees

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2869020

Human Ovalbumin Serpin Evolution: Phylogenic Analysis, Gene Organization, and Identification of New PI8-Related Genes Suggest That Two Interchromosomal and Several Intrachromosomal Duplications Generated the Gene Clusters at 18q21–q23 and 6p25

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2869020

Faster linkage analysis computations for pedigrees with loops or unused alleles.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2869020

GRR: graphical representation of relationship errors

29 November 2018

1 reference

https://pubmed.ncbi.nlm.nih.gov/20451170

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Genetic epidemiological studies of congenital/prelingual deafness in Turkey: Population structure and mating type are major determinants of mutation identification

1 reference

https://pubmed.ncbi.nlm.nih.gov/20451170

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2010.04.004

0 references

Fatcat ID

release_ecubtywpt5ffjp6vwulmkmssdu

0 references

PMC publication ID

2869020

0 references