(Q35039919)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21636066%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

title

Mutations in FYCO1 cause autosomal-recessive congenital cataracts (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21636066%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

0 references

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21636066%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

author name string

Jianjun Chen

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21636066%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Zhiwei Ma

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21636066%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Xiaodong Jiao

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21636066%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Wanda Lee Kantorow

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21636066%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Marc Kantorow

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21636066%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Eran Pras

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21636066%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Moshe Frydman

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21636066%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Elon Pras

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21636066%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Sheikh Riazuddin

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21636066%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

S Amer Riazuddin

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21636066%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

J Fielding Hejtmancik

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21636066%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

language of work or name

English

0 references

publication date

1 June 2011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21636066%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

2 February 2020

published in

1 reference

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2 February 2020

volume

88

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21636066%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

issue

6

1 reference

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2 February 2020

page(s)

827-838

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21636066%20AND%20SRC:MED&resulttype=core&format=json

Cat-Map: putting cataract on the map

2 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3113247

Network organization of the human autophagy system

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3113247

Autosomal recessive congenital cataract linked to EPHA2 in a consanguineous Pakistani family

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3113247

FYCO1 is a Rab7 effector that binds to LC3 and PI3P to mediate microtubule plus end-directed vesicle transport

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3113247

Depletion of kinesin 5B affects lysosomal distribution and stability and induces peri-nuclear accumulation of autophagosomes in cancer cells

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3113247

Enhancing immunity through autophagy

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3113247

CDD: specific functional annotation with the Conserved Domain Database

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3113247

Autophagy: a lysosomal degradation pathway with a central role in health and disease

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3113247

A missense mutation in LIM2 causes autosomal recessive congenital cataract

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3113247

Autophagy fights disease through cellular self-digestion

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3113247

Autophagy in the Pathogenesis of Disease

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3113247

Congenital cataracts and their molecular genetics

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3113247

Homozygous CRYBB1 deletion mutation underlies autosomal recessive congenital cataract

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3113247

Autosomal recessive juvenile onset cataract associated with mutation in BFSP1.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3113247

Coiled-coil protein composition of 22 proteomes--differences and common themes in subcellular infrastructure and traffic control

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3113247

Mutations in betaB3-crystallin associated with autosomal recessive cataract in two Pakistani families

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3113247

A nationwide Danish study of 1027 cases of congenital/infantile cataracts: etiological and clinical classifications

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3113247

Role for Rab7 in maturation of late autophagic vacuoles

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3113247

A homozygous splice mutation in the HSF4 gene is associated with an autosomal recessive congenital cataract

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3113247

A nonsense mutation in the glucosaminyl (N-acetyl) transferase 2 gene (GCNT2): association with autosomal recessive congenital cataracts

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3113247

A missense mutation in the LIM2 gene is associated with autosomal recessive presenile cataract in an inbred Iraqi Jewish family

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3113247

The transcriptional map of the common eliminated region 1 (C3CER1) in 3p21.3.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3113247

Hepatocyte growth factor function and c-Met expression in human lens epithelial cells

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3113247

Cataract--a global perspective: output, outcome and outlay

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3113247

Faster sequential genetic linkage computations

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3113247

Easy calculations of lod scores and genetic risks on small computers

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3113247

A simple and efficient non-organic procedure for the isolation of genomic DNA from blood

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3113247

Predicting coiled coils from protein sequences

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3113247

Rab7 is required for the normal progression of the autophagic pathway in mammalian cells

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3113247

Comparative human/murine sequence analysis of the common eliminated region 1 from human 3p21.3.

25 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3113247

A nonsense mutation (W9X) in CRYAA causes autosomal recessive cataract in an inbred Jewish Persian family

25 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3113247

FYCO1: Linking autophagosomes to microtubule plus end-directing molecular motors

25 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3113247

9 December 2018

1 reference

12 December 2020

Congenital ocular blindness in children, 1945 to 1984

1 reference

PubMed

12 December 2020

1 reference

12 December 2020

Mutation of the gap junction protein alpha 8 (GJA8) gene causes autosomal recessive cataract

1 reference

PubMed

12 December 2020

A gene causing autosomal recessive cataract maps to the short arm of chromosome 3

1 reference

PubMed

12 December 2020

10.1016/J.AJHG.2011.05.008

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21636066%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21636066%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

1 reference