Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type (Q36369958)

13 August 2017

Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type (English)

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13 August 2017

24

Hilde Van Esch

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Alejandro Sifrim

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object named as

Alejandro Sifrim

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13 August 2017

Martin Breuss

2

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David Keays

object named as

David Anthony Keays

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Joris R Vermeesch

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object named as

Joris Robert Vermeesch

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13 August 2017

Mala Isrie

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13 August 2017

Guoling Tian

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13 August 2017

Andi Harley Hansen

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Francesca Cristofoli

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Jasmin Morandell

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13 August 2017

Zachari A Kupchinsky

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13 August 2017

Celia Maria Rodriguez-Rodriguez

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13 August 2017

Elena Porta Dapena

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13 August 2017

Kurston Doonanco

11

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Norma Leonard

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Faten Tinsa

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Stéphanie Moortgat

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Hakan Ulucan

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Erkan Koparir

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Ender Karaca

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Nicholas Katsanis

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Valeria Marton

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Erica E Davis

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Nicholas J Cowan

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Hilde Van Esch

24

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13 August 2017

language of work or name

English

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publication date

1 December 2015

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American Journal of Human Genetics

13 August 2017

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97

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790-800

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describes a project that uses

13 August 2017

ImageJ

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11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4678434/fullTextXML

based on heuristic

inferred from PubMed Central ID database lookup

cites work

Dynamic instability 30 years later: complexities in microtubule growth and catastrophe

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678434

Microtubules and neurodevelopmental disease: the movers and the makers

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678434

In vivo modeling of the morbid human genome using Danio rerio

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678434

The microtubule end-binding protein EB2 is a central regulator of microtubule reorganisation in apico-basal epithelial differentiation

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678434

Genetic architecture of reciprocal CNVs

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678434

Mutations in the β-tubulin gene TUBB5 cause microcephaly with structural brain abnormalities

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678434

Skeletogenic fate of zebrafish cranial and trunk neural crest

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678434

Annotate-it: a Swiss-knife approach to annotation, analysis and interpretation of single nucleotide variation in human disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678434

New syndrome of congenital circumferential skin folds associated with multiple congenital anomalies

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678434

Asymmetric cell divisions promote Notch-dependent epidermal differentiation

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678434

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678434

Plus-end-tracking proteins and their interactions at microtubule ends

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678434

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678434

A method and server for predicting damaging missense mutations

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678434

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678434

A pachygyria-causing alpha-tubulin mutation results in inefficient cycling with CCT and a deficient interaction with TBCB.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678434

Structural intermediates in microtubule assembly and disassembly: how and why?

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678434

Asymmetric cell divisions promote stratification and differentiation of mammalian skin

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678434

A second patient with MCA/MR syndrome with multiple circumferential skin creases

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678434

Type II chaperonins, prefoldin, and the tubulin-specific chaperones

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678434

EB/RP gene family encodes tubulin binding proteins

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678434

Circumferential ringed creases ("Michelin tire babies") with specific histologic findings and/or karyotype abnormalities: clues to molecular pathogenesis?

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678434

Multiple circumferential skin folds and other anomalies: a problem in syndrome delineation.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678434

A new genetic disorder: autosomal-dominant multiple benign ring-shaped skin creases

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678434

Generalized folded skin with an underlying lipomatous nevus. "The Michelin Tire baby"

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678434

TUBB5 and its disease-associated mutations influence the terminal differentiation and dendritic spine densities of cerebral cortical neurons

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678434

Circumferential skin folds and multiple anomalies: confirmation of a distinct autosomal recessive Michelin tire baby syndrome

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678434

MutationTaster2: mutation prediction for the deep-sequencing age.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678434

A functional variant in the CFI gene confers a high risk of age-related macular degeneration

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678434

High-throughput hyperdimensional vertebrate phenotyping.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678434

Circumferential skin creases, cleft palate, typical face, intellectual disability and growth delay: "circumferential skin creases Kunze type".

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678434

Multiple congenital anomalies/mental retardation syndrome with multiple circumferential skin creases: a new syndrome?

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678434

Hearing impairment, undescended testis, circumferential skin creases, and mental handicap (HITCH) syndrome: a case report.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678434

New syndrome?: MCA/MR syndrome with multiple circumferential skin creases

21 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26637975

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2015.10.014

1 reference

release_uwjbz2vi2bg77lwsmjgsguf64q

13 August 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/uwjbz2vi2bg77lwsmjgsguf64q

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference

13 August 2017

PubMed publication ID

26637975

1 reference