(Q28114951)

3 January 2017

title

A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases (English)

1 reference

Ankyrin repeat and LEM domain containing 2

3 January 2017

main subject

1 reference

negative regulation of apoptotic process

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

author

Yesim Parman

25

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James R. Lupski

41

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Eric Boerwinkle

36

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Esra Battaloğlu

27

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Joep de Ligt

21

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Donna Muzny

28

0 references

Manish Jaiswal

Manish Jaiswal

2

0 references

Hector Sandoval

Hector Sandoval

8

0 references

Tomasz Gambin

Tomasz Gambin

4

0 references

Zhandong Liu

Zhandong Liu

30

0 references

Shinya Yamamoto

Shinya Yamamoto

1

0 references

Hugo J. Bellen

Hugo J. Bellen

43

0 references

Bo Xiong

Bo Xiong

10

0 references

0 references

37

William B. Dobyns

1 reference

3 January 2017

39

Richard A. Gibbs

1 reference

3 January 2017

22

Shalini N. Jhangiani

1 reference

3 January 2017

5

Ender Karaca

1 reference

3 January 2017

20

Lisenka E. L. M. Vissers

1 reference

3 January 2017

23

Yajing Xie

1 reference

3 January 2017

17

Tamar Harel

1 reference

3 January 2017

18

Davut Pehlivan

1 reference

3 January 2017

Wu-Lin Charng

3

1 reference

3 January 2017

Ghayda Mirzaa

6

1 reference

3 January 2017

Wojciech Wiszniewski

7

1 reference

3 January 2017

Nele A. Haelterman

9

1 reference

3 January 2017

Ke Zhang

11

1 reference

3 January 2017

Vafa Bayat

12

1 reference

3 January 2017

Gabriela David

13

1 reference

3 January 2017

Tongchao Li

14

1 reference

3 January 2017

Kuchuan Chen

15

1 reference

3 January 2017

Upasana Gala

16

1 reference

3 January 2017

Samantha Penney

19

1 reference

3 January 2017

Stephen H. Tsang

24

1 reference

3 January 2017

Merve Sivaci

26

1 reference

3 January 2017

Ying-Wooi Wan

29

1 reference

3 January 2017

Alexander T. Lin-Moore

31

1 reference

3 January 2017

Robin D. Clark

32

1 reference

3 January 2017

Cynthia J. Curry

33

1 reference

3 January 2017

Nichole Link

34

1 reference

3 January 2017

Karen L. Schulze

35

1 reference

3 January 2017

Rando Allikmets

38

1 reference

3 January 2017

Rui Chen

40

1 reference

3 January 2017

Michael F. Wangler

42

1 reference

3 January 2017

language of work or name

English

0 references

publication date

25 September 2014

1 reference

3 January 2017

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3 January 2017

volume

159

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3 January 2017

issue

1

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3 January 2017

page(s)

200–214

1 reference

Human CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system function

3 January 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4298142

CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegeneration

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4298142

Coordination of kinase and phosphatase activities by Lem4 enables nuclear envelope reassembly during mitosis

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4298142

Genome-wide generation and systematic phenotyping of knockout mice reveals new roles for many genes

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4298142

Systematic discovery of nonobvious human disease models through orthologous phenotypes

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4298142

A genome-wide Drosophila screen for heat nociception identifies α2δ3 as an evolutionarily conserved pain gene

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4298142

Dopamine dynamics and signaling in Drosophila: an overview of genes, drugs and behavioral paradigms

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4298142

Mutations affecting segment number and polarity in Drosophila

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4298142

Mutations in the mitochondrial methionyl-tRNA synthetase cause a neurodegenerative phenotype in flies and a recessive ataxia (ARSAL) in humans

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4298142

An optimized transgenesis system for Drosophila using germ-line-specific phiC31 integrases

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4298142

Large-scale identification of chemically induced mutations in Drosophila melanogaster.

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4298142

RNAi screening in Drosophila cells and in vivo.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4298142

Human intellectual disability genes form conserved functional modules in Drosophila.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4298142

Mutations in VRK1 associated with complex motor and sensory axonal neuropathy plus microcephaly

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4298142

Dissecting social cell biology and tumors using Drosophila genetics

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4298142

Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4298142

PhenoDB: a new web-based tool for the collection, storage, and analysis of phenotypic features

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4298142

Genotype to phenotype: lessons from model organisms for human genetics

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4298142

FlyBase: improvements to the bibliography

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4298142

Probing mechanisms that underlie human neurodegenerative diseases in Drosophila

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4298142

Signaling mechanisms that coordinate the development and maintenance of dendritic fields

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4298142

Clan genomics and the complex architecture of human disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4298142

Whole-genome sequencing for optimized patient management

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4298142

A molecularly defined duplication set for the X chromosome of Drosophila melanogaster

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4298142

A New Resource for CharacterizingX-Linked Genes inDrosophila melanogaster: Systematic Coverage and Subdivision of theXChromosome With Nested,Y-Linked Duplications

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4298142

A combined ex vivo and in vivo RNAi screen for notch regulators in Drosophila reveals an extensive notch interaction network.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4298142

100 years of Drosophila research and its impact on vertebrate neuroscience: a history lesson for the future

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4298142

Many roads lead to primary autosomal recessive microcephaly

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4298142

Genome-wide analysis of Notch signalling in Drosophila by transgenic RNAi

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4298142

29 September 2017

ESCRTs and human disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4298142

Drosophila models of neurodegenerative diseases

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4298142

EMS screens : from mutagenesis to screening and mapping

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4298142

Phototransduction and retinal degeneration in Drosophila.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4298142

P[acman]: a BAC transgenic platform for targeted insertion of large DNA fragments in D. melanogaster.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4298142

An efficient genetic screen in Drosophila to identify nuclear-encoded genes with mitochondrial function.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4298142

The conserved kinase NHK-1 is essential for mitotic progression and unifying acentrosomal meiotic spindles in Drosophila melanogaster

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4298142

Sec15, a component of the exocyst, promotes notch signaling during the asymmetric division of Drosophila sensory organ precursors.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4298142

Drosophila, the golden bug, emerges as a tool for human genetics

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4298142

From first base: the sequence of the tip of the X chromosome of Drosophila melanogaster, a comparison of two sequencing strategies

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4298142

The microcephaly protein Asp regulates neuroepithelium morphogenesis by controlling the spatial distribution of myosin II.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4298142

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

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4298142

Patterns of cell division and expression of asymmetric cell fate determinants in postembryonic neuroblast lineages of Drosophila.

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4298142

A Drosophila RNAi collection is subject to dominant phenotypic effects.

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4298142

The Centers for Mendelian Genomics: a new large-scale initiative to identify the genes underlying rare Mendelian conditions.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4298142

Analysis of Drosophila photoreceptor axon guidance in eye-specific mosaics.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4298142

orthodenticle is required for photoreceptor cell development in the Drosophila eye.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4298142

CRX variants in cone-rod dystrophy and mutation overview

27 November 2018

1 reference

https://pubmed.ncbi.nlm.nih.gov/25259927

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.CELL.2014.09.002

1 reference

1 reference

1 reference

1 reference