Autozygome sequencing expands the horizon of human knockout research and provides novel insights into human phenotypic variation. (Q35075163)

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3 March 2020

title

Autozygome sequencing expands the horizon of human knockout research and provides novel insights into human phenotypic variation (English)

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3 March 2020

2

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3 March 2020

Fowzan S Alkuraya

5

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3 March 2020

author name string

Ahmed B Alsalem

1

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3 March 2020

Shamsa Anazi

3

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Shomoukh Alshamekh

4

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publication date

19 December 2013

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3 March 2020

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3 March 2020

volume

9

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issue

12

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page(s)

e1004030

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Creative Commons Attribution 4.0 International

3 March 2020

copyright license

start time

19 December 2013

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April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

describes a project that uses

SQL

1 reference

26 June 2022

https://europepmc.org/article/PMC/PMC3868571

based on heuristic

inferred from PubMed Central ID database lookup

cites work

Estimating the human mutation rate using autozygosity in a founder population

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3868571

The innate immune sensor NLRC3 attenuates Toll-like receptor signaling via modification of the signaling adaptor TRAF6 and transcription factor NF-κB

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3868571

LPS-responsive beige-like anchor (LRBA) gene mutation in a family with inflammatory bowel disease and combined immunodeficiency

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3868571

A systematic survey of loss-of-function variants in human protein-coding genes

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3868571

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3868571

Sensing muscle ischemia: coincident detection of acid and ATP via interplay of two ion channels.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3868571

CSPP is a ciliary protein interacting with Nephrocystin 8 and required for cilia formation

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3868571

Creation of a bacterial cell controlled by a chemically synthesized genome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3868571

Missing heritability and strategies for finding the underlying causes of complex 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=3868571

Homozygosity mapping: one more tool in the clinical geneticist's toolbox

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3868571

Polymorphism of the ovine keratin-associated protein 1-4 gene (KRTAP1-4).

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3868571

Common variants of FUT2 are associated with plasma vitamin B12 levels

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3868571

Runs of homozygosity in European populations

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3868571

Structural and functional features of dimeric dihydrodiol dehydrogenase

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3868571

Neurological findings in aminoacylase 1 deficiency

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3868571

Transient receptor potential family members PKD1L3 and PKD2L1 form a candidate sour taste receptor

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3868571

Essential genes of a minimal bacterium

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3868571

A functional SNP in CILP, encoding cartilage intermediate layer protein, is associated with susceptibility to lumbar disc 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=3868571

Adipose-derived resistin and gut-derived resistin-like molecule-beta selectively impair insulin action on glucose production

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3868571

Purification to Apparent Homogeneity and Properties of Pig Kidneyl-Fucose Kinase

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3868571

Polymorphism in two genes for B2 high sulfur proteins of wool

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3868571

Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3868571

NADP( )-dependent D-xylose dehydrogenase from pig liver. Purification and properties

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3868571

Autozygome maps dispensable DNA and reveals potential selective bias against nullizygosity.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3868571

Loss-of-function variant in DNASE1L3 causes a familial form of systemic lupus erythematosus

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3868571

Diversity of the glycine/tyrosine-rich keratin-associated protein 6 gene (KAP6) family in sheep

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3868571

Beta-ureidopropionase deficiency presenting with congenital anomalies of the urogenital and colorectal systems

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3868571

Size polymorphisms in the human ultrahigh sulfur hair keratin-associated protein 4, KAP4, gene family

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3868571

Polymorphisms in the human high sulfur hair keratin-associated protein 1, KAP1, gene family

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3868571

10.1371/JOURNAL.PGEN.1004030

27 September 2018

Identifiers

DOI

1 reference

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3 March 2020

1 reference

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3 March 2020

PubMed publication ID

24367280

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24367280 AND SRC:MED&resulttype=core&format=json