Mutations in mammalian tolloid-like 1 gene detected in adult patients with ASD. (Q34325860)

1 August 2017

title

Mutations in mammalian tolloid-like 1 gene detected in adult patients with ASD. (English)

1 reference

Aleksandra Auguściak-Duma

1 August 2017

main subject

autism spectrum disorder

0 references

author

object named as

Aleksandra Auguściak-Duma

6

1 reference

1 August 2017

10

Aleksander L Sieroń

1 reference

1 August 2017

2

Joanna Witecka

1 reference

1 August 2017

4

Ewa Gutmajster

1 reference

1 August 2017

7

Maciej Tarnowski

1 reference

Małgorzata Buksińska-Lisik

1 August 2017

5

object named as

Małgorzata Lisik

1 reference

1 August 2017

Paweł Stańczak

1

1 reference

1 August 2017

Anna Szydło

3

1 reference

1 August 2017

Tomasz Czekaj

8

1 reference

1 August 2017

Hanna Czekaj

9

1 reference

1 August 2017

language of work or name

English

0 references

publication date

1 October 2008

1 reference

European Journal of Human Genetics

1 August 2017

published in

1 reference

1 August 2017

volume

17

1 reference

1 August 2017

issue

3

1 reference

1 August 2017

page(s)

344-351

1 reference

Bone morphogenetic protein 1 processes prolactin to a 17-kDa antiangiogenic factor

1 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986167

Bone morphogenetic protein-1 (BMP-1). Identification of the minimal domain structure for procollagen C-proteinase activity

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986167

Identification of amino acid residues in bone morphogenetic protein-1 important for procollagen C-proteinase activity

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986167

Improvements in cytogenetic slide preparation: controlled chromosome spreading, chemical aging and gradual denaturing

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986167

Post-translational proteolytic processing of procollagen C-terminal proteinase enhancer releases a metalloproteinase inhibitor.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986167

Mammalian BMP-1/Tolloid-related metalloproteinases, including novel family member mammalian Tolloid-like 2, have differential enzymatic activities and distributions of expression relevant to patterning and skeletogenesis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986167

Coding sequence and expression patterns of mouse chordin and mapping of the cognate mouse chrd and human CHRD genes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986167

Production of a DPP activity gradient in the early Drosophila embryo through the opposing actions of the SOG and TLD proteins

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986167

Cleavage of Chordin by Xolloid metalloprotease suggests a role for proteolytic processing in the regulation of Spemann organizer activity

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986167

Transcription factors and the cardiac gene programme

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986167

Failure of ventral body wall closure in mouse embryos lacking a procollagen C-proteinase encoded by Bmp1, a mammalian gene related to Drosophila tolloid

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986167

New understandings in the genetics of congenital heart 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=2986167

Characterization of a novel gene product (mammalian tolloid-like) with high sequence similarity to mammalian tolloid/bone morphogenetic protein-1

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986167

The C-proteinase that processes procollagens to fibrillar collagens is identical to the protein previously identified as bone morphogenic protein-1

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986167

Metalloproteinase Activity Secreted by Fibrogenic Cells in the Processing of Prolysyl Oxidase

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986167

Molecular pathways controlling heart development

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986167

Mouse mutants and cardiac development: new molecular insights into cardiogenesis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986167

Bone morphogenetic protein-1: the type I procollagen C-proteinase

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986167

Refined 1.8 A X-ray crystal structure of astacin, a zinc-endopeptidase from the crayfish Astacus astacus L. Structure determination, refinement, molecular structure and comparison with thermolysin

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986167

Type I procollagen COOH-terminal proteinase enhancer protein: identification, primary structure, and chromosomal localization of the cognate human gene (PCOLCE)

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986167

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986167

Familial risks of congenital heart defect assessed in a population-based epidemiologic study.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986167

Novel regulators of bone formation: molecular clones and activities

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986167

Natural course of atrial septal aneurysm in children and the potential for spontaneous closure of associated septal defect

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986167

Congenital heart disease: incidence and inheritance.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986167

Identification of transforming growth factor beta family members present in bone-inductive protein purified from bovine bone

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986167

Fluorescent oligopeptide substrates for kinetic characterization of the specificity of Astacus protease.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986167

The astacin family of metalloendopeptidases

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986167

Familial atrial septal defect with prolonged atrioventricular conduction

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986167

The mammalian Tolloid-like 1 gene, Tll1, is necessary for normal septation and positioning of the heart.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986167

Holy Tolloido: Tolloid cleaves SOG/Chordin to free DPP/BMPs.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986167

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986167

Two domains of the tolloid protein contribute to its unusual genetic interaction with decapentaplegic.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986167

A 25.7×103Mr hydra metalloproteinase (HMP1), a member of the astacin family, localizes to the extracellular matrix of Hydra vulgaris in a head-specific manner and has a developmental function

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986167

Dominant mode of inheritance in atrial septal defect

28 October 2018

1 reference

12 December 2020

Autosomal dominant atrial septal defect of ostium secundum type. Report of three families

1 reference

12 December 2020

The clinical and genetic spectrum of the Holt-Oram syndrome (heart-hand syndrome)

1 reference

12 December 2020

Chromosome abnormalities in congenital heart disease

1 reference

12 December 2020

Deletion of Epidermal Growth Factor-like Domains Converts Mammalian Tolloid into a Chordinase and Effective Procollagen C-proteinase

1 reference

12 December 2020

Metalloproteinase activity secreted by fibrogenic cells in the processing of prolysyl oxidase. Potential role of procollagen C-proteinase

1 reference

12 December 2020

Identifiers

DOI

10.1038/EJHG.2008.175

1 reference

Dimensions Publication ID

1 August 2017

1022941191

0 references

Fatcat ID

release_hrqt3kio5fdepcuum7kj6fgqhq

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/hrqt3kio5fdepcuum7kj6fgqhq

24 November 2022

mapped directly with Wikidata item

PMC publication ID

2986167

1 reference

1 August 2017

1 reference