(Q33960453)

30 July 2017

title

Mesomelia-synostoses syndrome results from deletion of SULF1 and SLCO5A1 genes at 8q13. (English)

1 reference

mesomelia-synostoses syndrome

30 July 2017

main subject

1 reference

16

Cédric Le Caignec

0 references

Richard Redon

Richard Redon

3

0 references

Geert Mortier

Geert R Mortier

12

0 references

Alain Verloes

14

Alain Verloes

1 reference

30 July 2017

13

Anita Rauch

1 reference

30 July 2017

Maria Bitner-Glindzicz

7

Maria Bitner-Glindzicz

1 reference

30 July 2017

Bertrand Isidor

1

1 reference

30 July 2017

Olivier Pichon

2

1 reference

30 July 2017

Debra Day-Salvatore

4

1 reference

30 July 2017

Antoine Hamel

5

1 reference

30 July 2017

Karolina A Siwicka

6

1 reference

30 July 2017

Dominique Heymann

8

1 reference

30 July 2017

Lena Kjellén

9

1 reference

30 July 2017

Cornelia Kraus

10

1 reference

30 July 2017

Jules G Leroy

11

1 reference

30 July 2017

Albert David

15

1 reference

30 July 2017

language of work or name

English

0 references

publication date

17 June 2010

1 reference

American Journal of Human Genetics

30 July 2017

published in

1 reference

30 July 2017

volume

87

1 reference

30 July 2017

issue

1

1 reference

30 July 2017

page(s)

95-100

1 reference

MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations

30 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=2896765

A case of mesomelic dysplasia Kantaputra type--new findings and a new diagnostic approach.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896765

The tumor suppressor function of human sulfatase 1 (SULF1) in carcinogenesis.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896765

Interleukin-6 inhibits receptor activator of nuclear factor kappaB ligand-induced osteoclastogenesis by diverting cells into the macrophage lineage: key role of Serine727 phosphorylation of signal transducer and activator of transcription 3.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896765

Redundant function of the heparan sulfate 6-O-endosulfatases Sulf1 and Sulf2 during skeletal development

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896765

A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896765

The mechanism of human nonhomologous DNA end joining

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896765

Secreted sulfatases Sulf1 and Sulf2 have overlapping yet essential roles in mouse neonatal survival

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896765

Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome)

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896765

Downregulation of osteoblast markers and induction of the glial fibrillary acidic protein by oncostatin M in osteosarcoma cells require PKCdelta and STAT3.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896765

Mutations in a new member of the chromodomain gene family cause CHARGE syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896765

QSulf1, a heparan sulfate 6-O-endosulfatase, inhibits fibroblast growth factor signaling in mesoderm induction and angiogenesis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896765

Domain-specific modification of heparan sulfate by Qsulf1 modulates the binding of the bone morphogenetic protein antagonist Noggin

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896765

Receptor activator of nuclear factor kappaB ligand (RANKL)/osteoprotegerin (OPG) ratio is increased in severe osteolysis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896765

QSulf1 remodels the 6-O sulfation states of cell surface heparan sulfate proteoglycans to promote Wnt signaling

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896765

Analysis of Relative Gene Expression Data Using Real-Time Quantitative PCR and the 2−ΔΔCT Method

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896765

Genome architecture, rearrangements and genomic disorders

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896765

Blepharophimosis, hypoplastic radius, hypoplastic left heart, telecanthus, hydronephrosis, fused metacarpals, and "prehensile" halluces: a new syndrome?

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896765

Mesomelic dysplasia with acral synostoses Verloes-David-Pfeiffer type: Follow-up study documents progressive clinical course

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896765

Kantaputra mesomelic dysplasia: a second reported family.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896765

Mesomelic dysplasia with specific autopodal synostoses: a third observation and further delineation of the multiple congenital anomaly syndrome.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896765

Array CGH analysis of copy number variation identifies 1284 new genes variant in healthy white males: implications for association studies of complex diseases

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896765

Dominant mesomelic shortness of stature with acral synostoses, umbilical anomalies, and soft palate agenesis

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896765

Nosology and classification of genetic skeletal disorders: 2006 revision

29 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20602915

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Heparan sulfate structure in mice with genetically modified heparan sulfate production

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20602915

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Specific acromesomelia with facial and renal anomalies: a new syndrome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20602915

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2010.05.012

1 reference

30 July 2017

1 reference

30 July 2017

1 reference