(Q38012786)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22624670%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

title

Exploring the spectrum of 3-M syndrome, a primordial short stature disorder of disrupted ubiquitination (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22624670%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

main subject

protein ubiquitination

1 reference

1 reference

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22624670%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Peter E. Clayton

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22624670%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Philip G. Murray

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22624670%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

author name string

Dan Hanson

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22624670%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Lucia Magee

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22624670%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Emma Saunders

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22624670%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Sayeda N Abu-Amero

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22624670%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Gudrun E Moore

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22624670%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

language of work or name

1 reference

1 September 2012

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22624670%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

published in

Clinical Endocrinology

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22624670%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

volume

77

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22624670%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22624670%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

page(s)

335-342

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22624670%20AND%20SRC:MED&resulttype=core&format=json

3-M syndrome: description of six new patients with review of the literature

2 February 2020

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2012.04428.X

The primordial growth disorder 3-M syndrome connects ubiquitination to the cytoskeletal adaptor OBSL1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2012.04428.X

Exome sequencing identifies CCDC8 mutations in 3-M syndrome, suggesting that CCDC8 contributes in a pathway with CUL7 and OBSL1 to control human growth

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2012.04428.X

Identification of mutations in CUL7 in 3-M syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2012.04428.X

3-M syndrome: a report of three Egyptian cases with review of the literature.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2012.04428.X

Clinical, molecular and histopathological features of short stature syndrome with novel CUL7 mutation in Yakuts: new population isolate in Asia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2012.04428.X

Further delineation of the 3-M syndrome with review of the literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2012.04428.X

Dwarfism with gloomy face: a new syndrome with features of 3-M syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2012.04428.X

Is autosomal recessive Silver-Russel syndrome a separate entity or is it part of the 3-M syndrome spectrum?

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2012.04428.X

Adolescent growth and pubertal progression in the Silver-Russell syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2012.04428.X

Molecular studies in 37 Silver-Russell syndrome patients: frequency and etiology of uniparental disomy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2012.04428.X

A narrow segment of maternal uniparental disomy of chromosome 7q31-qter in Silver-Russell syndrome delimits a candidate gene region

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2012.04428.X

Duplication of 7p11.2-p13, including GRB10, in Silver-Russell syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2012.04428.X

Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2012.04428.X

Epigenetic signatures of Silver-Russell syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2012.04428.X

Epigenetic modification and uniparental inheritance of H19 in Beckwith-Wiedemann syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2012.04428.X

Mulibrey nanism: clinical features and diagnostic criteria

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2012.04428.X

Growth and growth hormone therapy in subjects with mulibrey nanism.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2012.04428.X

Studies of microcephalic primordial dwarfism I: approach to a delineation of the Seckel syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2012.04428.X

Craniocervical anomalies in Dubowitz syndrome. Three cases and a literature review

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2012.04428.X

Majewski osteodysplastic primordial dwarfism type II (MOPD II): natural history and clinical findings.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2012.04428.X

Mutations in the pericentrin (PCNT) gene cause primordial dwarfism

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2012.04428.X

Adult height after long-term, continuous growth hormone (GH) treatment in short children born small for gestational age: results of a randomized, double-blind, dose-response GH trial

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2012.04428.X

The genetics of 3-M syndrome: unravelling a potential new regulatory growth pathway.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2012.04428.X

A large-scale mutation search reveals genetic heterogeneity in 3M syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2012.04428.X

CUL7: A DOC domain-containing cullin selectively binds Skp1.Fbx29 to form an SCF-like complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2012.04428.X

Targeted disruption of p185/Cul7 gene results in abnormal vascular morphogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2012.04428.X

The cullin7 E3 ubiquitin ligase: a novel player in growth control

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2012.04428.X

Cytoplasmic localized ubiquitin ligase cullin 7 binds to p53 and promotes cell growth by antagonizing p53 function.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2012.04428.X

A novel p53-binding domain in CUL7.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2012.04428.X

The conserved CPH domains of Cul7 and PARC are protein-protein interaction modules that bind the tetramerization domain of p53

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2012.04428.X

CUL7 is a novel antiapoptotic oncogene

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2012.04428.X

The CUL7 E3 ubiquitin ligase targets insulin receptor substrate 1 for ubiquitin-dependent degradation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2012.04428.X

Obscurin-like 1, OBSL1, is a novel cytoskeletal protein related to obscurin

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2012.04428.X

Interactions with titin and myomesin target obscurin and obscurin-like 1 to the M-band: implications for hereditary myopathies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2012.04428.X

Differential effects on p53-mediated cell cycle arrest vs. apoptosis by p90.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2012.04428.X

Oncogenic properties and prognostic implications of the ubiquitin ligase Skp2 in cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2012.04428.X