De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development (Q29465788)

18 April 2017

De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development (English)

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Collaborative Research Centre (CRC) 1002: "Modulatory Units in Heart Failure"

18 April 2017

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main subject

Structural maintenance of chromosomes flexible hinge domain containing 1

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GOA release 2020-03-11

nose development

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BOSMA Arhinia Microphthalmia Syndrome

GOA release 2020-03-11

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12

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Gökhan Yigit

3

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Peter Nürnberg

16

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Nadine Rosin

6

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Bernd Wollnik

50

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Stanislas Lyonnet

45

Stanislas Lyonnet

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Hulya Kayserili

40

Hülya Kayserili

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Patrick Nitschké

33

Patrick Nitschké

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18 April 2017

Christine Bôle-Feysot

32

Christine Bole-Feysot

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Hicham Filali

Hicham Filali

4

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Christopher T Gordon

Christopher T Gordon

1

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Frederique Magdinier

Frédérique Magdinier

46

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James Murphy

James M Murphy

41

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Jeanne Amiel

Jeanne Amiel

49

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Dieter Meschede

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Dieter Meschede

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48

Marnie E Blewitt

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14

Holger Thiele

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ORCID Public Data File 2021

18 April 2017

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Myriam Oufadem

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Myriam Oufadem

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10

Ruth McGowan

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Sabine Sigaudy

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Nicola Ragge

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Shifeng Xue

2

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Kelan Chen

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Koh-Ichiro Yoshiura

7

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Tamara J Beck

9

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Alex C Magee

11

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Camille Dion

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Alexandra D Gurzau

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Wolfgang Mühlbauer

18

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Nobuhiko Okamoto

19

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Vinod Varghese

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Rachel Irving

21

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Denise Williams

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S Faisal Ahmed

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Carine Bonnard

25

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Mung Kei Kong

26

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Ilham Ratbi

27

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Nawfal Fejjal

28

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Meriem Fikri

29

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Siham Chafai Elalaoui

30

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Hallvard Reigstad

31

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Nicolas Lévy

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Gökhan Tunçbilek

36

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Audrey S M Teo

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Michael L Cunningham

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Abdelaziz Sefiani

39

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Chalermpong Chatdokmaiprai

42

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Axel M Hillmer

43

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Duangrurdee Wattanasirichaigoon

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Asif Javed

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Bruno Reversade

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18 April 2017

language of work or name

English

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publication date

9 January 2017

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https://sfb1002.med.uni-goettingen.de/production/literature/publications/456/

18 April 2017

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published in

Nature Genetics

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18 April 2017

49

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2

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18 April 2017

249-255

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SmcHD1, containing a structural-maintenance-of-chromosomes hinge domain, has a critical role in X inactivation

18 April 2017

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Epigenetic functions of smchd1 repress gene clusters on the inactive X chromosome and on autosomes

21 April 2017

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Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2

21 April 2017

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A unifying genetic model for facioscapulohumeral muscular dystrophy

21 April 2017

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The FSHD2 Gene SMCHD1 Is a Modifier of Disease Severity in Families Affected by FSHD1

21 April 2017

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

21 April 2017

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The Sequence Alignment/Map format and SAMtools

21 April 2017

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21 April 2017

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dbSNP: the NCBI database of genetic variation

21 April 2017

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GENCODE: the reference human genome annotation for The ENCODE Project

21 April 2017

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A global reference for human genetic variation

21 April 2017

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A method and server for predicting damaging missense mutations

21 April 2017

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CLUSTAL W: improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice

21 April 2017

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A framework for variation discovery and genotyping using next-generation DNA sequencing data

21 April 2017

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

21 April 2017

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

21 April 2017

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MethPrimer: designing primers for methylation PCRs

21 April 2017

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The Phyre2 web portal for protein modeling, prediction and analysis

21 April 2017

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Deciphering key features in protein structures with the new ENDscript server

21 April 2017

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The epigenetic regulator Smchd1 contains a functional GHKL-type ATPase domain.

21 April 2017

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Bosma arhinia microphthalmia syndrome: Clinical report and review of the literature.

22 May 2017

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GnRH, anosmia and hypogonadotropic hypogonadism--where are we?

21 January 2018

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Novel skeletogenic patterning roles for the olfactory pit.

21 January 2018

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Genomics of mature and immature olfactory sensory neurons

21 January 2018

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Hypogonadotropic hypogonadism presenting with arhinia: a case report

21 January 2018

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Smchd1-dependent and -independent pathways determine developmental dynamics of CpG island methylation on the inactive X chromosome.

21 January 2018

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Human inactive X chromosome is compacted through a PRC2-independent SMCHD1-HBiX1 pathway

21 January 2018

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Smchd1 regulates a subset of autosomal genes subject to monoallelic expression in addition to being critical for X inactivation

21 January 2018

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Genome-wide binding and mechanistic analyses of Smchd1-mediated epigenetic regulation

21 January 2018

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SMCHD1 accumulates at DNA damage sites and facilitates the repair of DNA double-strand breaks

21 January 2018

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Structural maintenance of chromosomes flexible hinge domain containing 1 (SMCHD1) promotes non-homologous end joining and inhibits homologous recombination repair upon DNA damage

21 January 2018

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Loss of epigenetic silencing of the DUX4 transcription factor gene in facioscapulohumeral muscular dystrophy

21 January 2018

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Inter-individual differences in CpG methylation at D4Z4 correlate with clinical variability in FSHD1 and FSHD2.

21 January 2018

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Clinical features of facioscapulohumeral muscular dystrophy 2.

21 January 2018

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Independent Mechanisms Target SMCHD1 to Trimethylated Histone H3 Lysine 9-Modified Chromatin and the Inactive X Chromosome.

21 January 2018

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GHKL, an emergent ATPase/kinase superfamily

21 January 2018

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Phen-Gen: combining phenotype and genotype to analyze rare disorders

21 January 2018

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Agile parallel bioinformatics workflow management using Pwrake

21 January 2018

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dbNSFP: a lightweight database of human nonsynonymous SNPs and their functional predictions

21 January 2018

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dbNSFP v3.0: A One-Stop Database of Functional Predictions and Annotations for Human Nonsynonymous and Splice-Site SNVs

21 January 2018

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Regional methylation of the 5' end CpG island of BRCA1 is associated with reduced gene expression in human somatic cells

21 January 2018

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BiQ Analyzer: visualization and quality control for DNA methylation data from bisulfite sequencing.

21 January 2018

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Segregation between SMCHD1 mutation, D4Z4 hypomethylation and Facio-Scapulo-Humeral Dystrophy: a case report

21 January 2018

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Different types of V(D)J recombination and end-joining defects in DNA double-strand break repair mutant mammalian cells

21 January 2018

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Bosma arhinia microphthalmia syndrome

21 January 2018

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inferred from DOI database lookup

7 January 2021

based on heuristic

SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome

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inferred from DOI database lookup

7 January 2021

based on heuristic

Differential DNA methylation of the D4Z4 repeat in patients with FSHD and asymptomatic carriers

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inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/NG.3765

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Dimensions Publication ID

18 April 2017

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