(Q22008462)

6 July 2017

title

Mutation analysis of LMX1B gene in nail-patella syndrome patients (English)

1 reference

LIM homeobox transcription factor 1 beta

6 July 2017

0 references

1 reference

multicellular organism development

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

nail-patella syndrome

1 reference

I McIntosh

1

I

McIntosh

1 reference

6 July 2017

S D Dreyer

2

S D

Dreyer

1 reference

6 July 2017

M V Clough

3

M V

Clough

1 reference

6 July 2017

J A Dunston

4

J A

Dunston

1 reference

6 July 2017

W Eyaid

5

W

Eyaid

1 reference

6 July 2017

C M Roig

6

C M

Roig

1 reference

6 July 2017

T Montgomery

7

T

Montgomery

1 reference

6 July 2017

S Ala-Mello

8

S

Ala-Mello

1 reference

6 July 2017

I Kaitila

9

I

Kaitila

1 reference

6 July 2017

A Winterpacht

10

A

Winterpacht

1 reference

6 July 2017

B Zabel

11

B

Zabel

1 reference

6 July 2017

M Frydman

12

M

Frydman

1 reference

6 July 2017

W G Cole

13

W G

Cole

1 reference

6 July 2017

C A Francomano

14

C A

Francomano

1 reference

6 July 2017

B Lee

15

B

Lee

1 reference

6 July 2017

language of work or name

English

0 references

publication date

1 December 1998

1 reference

American Journal of Human Genetics

6 July 2017

published in

1 reference

6 July 2017

volume

63

1 reference

6 July 2017

issue

6

1 reference

6 July 2017

page(s)

1651-1658

1 reference

Loss-of-function mutations in the LIM-homeodomain gene, LMX1B, in nail-patella syndrome

6 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377636

Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377636

Transcriptional synergy between LIM-homeodomain proteins and basic helix-loop-helix proteins: the LIM2 domain determines specificity

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377636

The des(1-6)antennapedia homeodomain: comparison of the NMR solution structure and the DNA-binding affinity with the intact Antennapedia homeodomain

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377636

Identification of a human LMX1 (LMX1.1)-related gene, LMX1.2: tissue-specific expression and linkage mapping on chromosome 9

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377636

Induction of the LIM homeobox gene Lmx1 by WNT6a establishes dorsoventral pattern in the vertebrate limb

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377636

The molecular basis of genetic dominance

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377636

Genetical linkage between the ABO and nail-patella loci

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377636

Nail patella syndrome in a cytogenetically balanced t(9;17)(q34.1;q25) carrier

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377636

SOX9 is a potent activator of the chondrocyte-specific enhancer of the pro alpha1(II) collagen gene

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377636

Fine mapping of the nail-patella syndrome locus at 9q34

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377636

Achondroplasia is defined by recurrent G380R mutations of FGFR3

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377636

When cells stop making sense: effects of nonsense codons on RNA metabolism in vertebrate cells.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377636

Transcription factors in disease

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377636

Homeodomain-DNA recognition

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377636

27 September 2017

DeLIMiting development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377636

Cosegregation of open-angle glaucoma and the nail-patella syndrome

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377636

Nuclear magnetic resonance spectroscopy of a DNA complex with the uniformly 13C-labeled Antennapedia homeodomain and structure determination of the DNA-bound homeodomain.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377636

The structure of the Antennapedia homeodomain determined by NMR spectroscopy in solution: comparison with prokaryotic repressors.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377636

GLI3 zinc-finger gene interrupted by translocations in Greig syndrome families

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377636

Limb and kidney defects in Lmx1b mutant mice suggest an involvement of LMX1B in human nail patella syndrome.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377636

Ectopic expression and function of the Antp and Scr homeotic genes: the N terminus of the homeodomain is critical to functional specificity.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377636

A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377636

Dorsal cell fate specified by chick Lmx1 during vertebrate limb development

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377636

HEREDITARY OSTEO-ONYCHO-DYSPLASIA (HOOD)

29 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/9837817

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Mutations in the PAX3 gene causing Waardenburg syndrome type 1 and type 2

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/9837817

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Physical mapping of the nail patella syndrome interval at 9q34: ordering of STSs and ESTs

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/9837817

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1086/302165

1 reference

OpenCitations bibliographic resource ID

6 July 2017

1166048

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

6 July 2017

1 reference