(Q36440353)

14 August 2017

Exome sequencing identified a missense mutation of EPS8L3 in Marie Unna hereditary hypotrichosis (English)

1 reference

14 August 2017

1 reference

GOA release 2020-03-11

regulation of hair cycle

1 reference

Marie Unna hereditary hypotrichosis

GOA release 2020-03-11

1 reference

Jun Wang

24

0 references

author name string

Xin Zhang

1

1 reference

14 August 2017

Bi-Rong Guo

2

1 reference

14 August 2017

Li-Qiong Cai

3

1 reference

14 August 2017

Tao Jiang

4

1 reference

14 August 2017

Liang-Dan Sun

5

1 reference

14 August 2017

Yong Cui

6

1 reference

14 August 2017

Jing-Chu Hu

7

1 reference

14 August 2017

Jun Zhu

8

1 reference

14 August 2017

Gang Chen

9

1 reference

14 August 2017

Xian-Fa Tang

10

1 reference

14 August 2017

Guang-Qing Sun

11

1 reference

14 August 2017

Hua-Yang Tang

12

1 reference

14 August 2017

Yuan Liu

13

1 reference

14 August 2017

Min Li

14

1 reference

14 August 2017

Qi-Bin Li

15

1 reference

14 August 2017

Hui Cheng

16

1 reference

14 August 2017

Min Gao

17

1 reference

14 August 2017

Ping Li

18

1 reference

14 August 2017

Xu Yang

19

1 reference

14 August 2017

Xian-Bo Zuo

20

1 reference

14 August 2017

Xiao-Dong Zheng

21

1 reference

14 August 2017

Pei-Guang Wang

22

1 reference

14 August 2017

Jian Wang

23

1 reference

14 August 2017

Jian-Jun Liu

25

1 reference

14 August 2017

Sen Yang

26

1 reference

14 August 2017

Ying-Rui Li

27

1 reference

14 August 2017

Xue-Jun Zhang

28

1 reference

14 August 2017

language of work or name

English

0 references

publication date

25 October 2012

1 reference

Journal of Medical Genetics

14 August 2017

1 reference

14 August 2017

49

1 reference

14 August 2017

12

1 reference

14 August 2017

727-730

1 reference

Exome sequencing and unrelated findings in the context of complex disease research: ethical and clinical implications

14 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3512347

Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3512347

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=3512347

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=3512347

Exome sequencing identifies the cause of a mendelian disorder

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3512347

Targeted capture and massively parallel sequencing of 12 human exomes

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3512347

SOAP2: an improved ultrafast tool for short read alignment

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3512347

Fast and accurate short read alignment with Burrows-Wheeler transform

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3512347

SNP detection for massively parallel whole-genome resequencing

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3512347

Beyond wavy hairs: the epidermal growth factor receptor and its ligands in skin biology and pathology

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3512347

SOAP: short oligonucleotide alignment program

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3512347

Mig6 is a negative regulator of EGF receptor-mediated skin morphogenesis and tumor formation

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3512347

Aligning multiple genomic sequences with the threaded blockset aligner

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3512347

Capturing and profiling adult hair follicle stem cells.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3512347

In silico analysis of the EPS8 gene family: genomic organization, expression profile, and protein structure.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3512347

The gene for hypotrichosis of Marie Unna maps between D8S258 and D8S298: exclusion of the hr gene by cDNA and genomic sequencing

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3512347

Genetically null mice reveal a central role for epidermal growth factor receptor in the differentiation of the hair follicle and normal hair development

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3512347

Expression of a dominant negative mutant of epidermal growth factor receptor in the epidermis of transgenic mice elicits striking alterations in hair follicle development and skin structure

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3512347

Mice with a null mutation of the TGF alpha gene have abnormal skin architecture, wavy hair, and curly whiskers and often develop corneal inflammation.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3512347

Using next-generation sequencing for the diagnosis of rare disorders: a family with retinitis pigmentosa and skeletal abnormalities.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3512347

Confirmation by exome sequencing of the pathogenic role of NCSTN mutations in acne inversa (hidradenitis suppurativa).

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3512347

Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3512347

Neural potential of a stem cell population in the hair follicle

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3512347

Marie Unna hereditary hypotrichosis: report of a Chinese family and evidence for genetic heterogeneity

21 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23099647

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identification of a Novel Locus for Marie Unna Hereditary Hypotrichosis to a 17.5 cM Interval at 1p21.1–1q21.3

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23099647

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMEDGENET-2012-101134

1 reference

14 August 2017

1 reference

14 August 2017

PubMed publication ID

23099647

1 reference