(Q30671141)

26 June 2017

1 reference

title

Computational analysis of human disease-associated genes and their protein products (English)

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26 June 2017

computational biology

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inferred from title

disease-related genes

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3

Koonin EV

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26 June 2017

Sreekumar KR

1

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PubMed ID

11377959

26 June 2017

Aravind L

series ordinal

2

1 reference

26 June 2017

1 June 2001

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Current Opinion in Genetics & Development

26 June 2017

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26 June 2017

11

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26 June 2017

247-257

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26 June 2017

3

1 reference

The genome sequence of Drosophila melanogaster

26 June 2017

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900186-6

7 January 2021

Analysis of the genome sequence of the flowering plant Arabidopsis thaliana

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900186-6

7 January 2021

Initial sequencing and analysis of the human genome

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900186-6

7 January 2021

The Sequence of the Human Genome

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900186-6

7 January 2021

Issues in searching molecular sequence databases

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900186-6

7 January 2021

Predicting functions from protein sequences--where are the bottlenecks?

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900186-6

7 January 2021

Bcl10 is involved in t(1;14)(p22;q32) of MALT B cell lymphoma and mutated in multiple tumor types

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900186-6

7 January 2021

The CARD domain: a new apoptotic signalling motif

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900186-6

7 January 2021

The modular nature of apoptotic signaling proteins

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900186-6

7 January 2021

Inactivating mutations and overexpression of BCL10, a caspase recruitment domain-containing gene, in MALT lymphoma with t(1;14)(p22;q32)

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900186-6

7 January 2021

Glycine 384 is required for presenilin-1 function and is conserved in bacterial polytopic aspartyl proteases

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900186-6

7 January 2021

The molecular basis of Boston-type craniosynostosis: the Pro148-->His mutation in the N-terminal arm of the MSX2 homeodomain stabilizes DNA binding without altering nucleotide sequence preferences

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900186-6

7 January 2021

Functional haploinsufficiency of the human homeobox gene MSX2 causes defects in skull ossification

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900186-6

7 January 2021

A human MSX1 homeodomain missense mutation causes selective tooth agenesis

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900186-6

7 January 2021

MSX1 mutation is associated with orofacial clefting and tooth agenesis in humans

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900186-6

7 January 2021

Human microphthalmia associated with mutations in the retinal homeobox gene CHX10

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900186-6

7 January 2021

Amegakaryocytic thrombocytopenia and radio-ulnar synostosis are associated with HOXA11 mutation

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900186-6

7 January 2021

Mutation of PAX9 is associated with oligodontia

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900186-6

7 January 2021

Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900186-6

7 January 2021

Mutation spectrum and predicted function of laforin in Lafora's progressive myoclonus epilepsy

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900186-6

7 January 2021

The Pfam protein families database.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900186-6

7 January 2021

The PROSITE database, its status in 1999

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900186-6

7 January 2021

Laforin, defective in the progressive myoclonus epilepsy of Lafora type, is a dual-specificity phosphatase associated with polyribosomes

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900186-6

7 January 2021

An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900186-6

7 January 2021

Gapped BLAST and PSI-BLAST: a new generation of protein database search programs

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900186-6

7 January 2021

The fukutin protein family--predicted enzymes modifying cell-surface molecules

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900186-6

7 January 2021

Friedreich's ataxia protein: phylogenetic evidence for mitochondrial dysfunction

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900186-6

7 January 2021

Studies of human, mouse and yeast homologues indicate a mitochondrial function for frataxin

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900186-6

7 January 2021

Crystal structure of human frataxin

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900186-6

7 January 2021

Frataxin activates mitochondrial energy conversion and oxidative phosphorylation

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900186-6

7 January 2021

Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900186-6

7 January 2021

Mutations in MKKS cause Bardet-Biedl syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900186-6

7 January 2021

Missense mutations interfere with VEGFR-3 signalling in primary lymphoedema

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900186-6

7 January 2021

The Pendred syndrome gene encodes a chloride-iodide transport protein

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900186-6

7 January 2021

A family of mammalian anion transporters and their involvement in human genetic diseases

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900186-6

7 January 2021

The STAS domain - a link between anion transporters and antisigma-factor antagonists

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900186-6

7 January 2021

The SpoIIAA protein of Bacillus subtilis has GTP-binding properties

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900186-6

7 January 2021

Gene encoding a new RING-B-box-Coiled-coil protein is mutated in mulibrey nanism

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900186-6

7 January 2021

The lore of the RINGs: substrate recognition and catalysis by ubiquitin ligases

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900186-6

7 January 2021

The domains of death: evolution of the apoptosis machinery

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900186-6

7 January 2021

Molecular genetic analysis of severe protein C deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900186-6

7 January 2021

Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900186-6

7 January 2021

OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900186-6

7 January 2021

Mutations in TNFRSF11A, affecting the signal peptide of RANK, cause familial expansile osteolysis

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900186-6

7 January 2021

BRCA1 protein products ... Functional motifs...

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900186-6

7 January 2021

Threading analysis suggests that the obese gene product may be a helical cytokine

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900186-6

7 January 2021

Positionally cloned human disease genes: patterns of evolutionary conservation and functional motifs

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900186-6

7 January 2021

A genomic perspective on protein families

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900186-6

7 January 2021

The COG database: new developments in phylogenetic classification of proteins from complete genomes

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900186-6

7 January 2021

A survey of human disease gene counterparts in the Drosophila genome

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900186-6

7 January 2021

Comparative genomics of the eukaryotes

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900186-6

7 January 2021

https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900186-6

1 reference

7 January 2021

Familial Parkinson disease gene product, parkin, is a ubiquitin-protein ligase

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900186-6

7 January 2021

The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900186-6

7 January 2021

Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900186-6

7 January 2021

Loss-of-function mutations in the EGF-CFC gene CFC1 are associated with human left-right laterality defects

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900186-6

7 January 2021

Macular corneal dystrophy type I and type II are caused by distinct mutations in a new sulphotransferase gene

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900186-6

7 January 2021

Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900186-6

7 January 2021

The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900186-6

7 January 2021

A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900186-6

7 January 2021

Mutations in ACTN4, encoding alpha-actinin-4, cause familial focal segmental glomerulosclerosis

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900186-6

7 January 2021

Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900186-6

7 January 2021

Mutations in LHX3 result in a new syndrome revealed by combined pituitary hormone deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900186-6

7 January 2021

Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900186-6

7 January 2021

Identification of the familial cylindromatosis tumour-suppressor gene

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900186-6

7 January 2021

The gene MAPK8IP1, encoding islet-brain-1, is a candidate for type 2 diabetes

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900186-6

7 January 2021

Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900186-6

7 January 2021

EIF2AK3, encoding translation initiation factor 2-alpha kinase 3, is mutated in patients with Wolcott-Rallison syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900186-6

7 January 2021

TLR4 mutations are associated with endotoxin hyporesponsiveness in humans

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900186-6

7 January 2021

The diastrophic dysplasia gene encodes a novel sulfate transporter: positional cloning by fine-structure linkage disequilibrium mapping

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900186-6

7 January 2021

Mutations of the Down-regulated in adenoma (DRA) gene cause congenital chloride diarrhoea

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900186-6

7 January 2021

A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900186-6

7 January 2021

Biochemical defects in ABCR protein variants associated with human retinopathies

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900186-6

7 January 2021

Loss-of-function mutations in TYROBP (DAP12) result in a presenile dementia with bone cysts.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900186-6

7 January 2021

Identification of HE1 as the second gene of Niemann-Pick C disease

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900186-6

7 January 2021

Evidence for a Niemann-pick C (NPC) gene family: identification and characterization of NPC1L1.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900186-6

7 January 2021

Mutations in the human delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900186-6

7 January 2021

Dominant mutations in ROR2, encoding an orphan receptor tyrosine kinase, cause brachydactyly type B

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900186-6

7 January 2021

Mutations in ATP2C1, encoding a calcium pump, cause Hailey-Hailey disease

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900186-6

7 January 2021

Congenital hereditary lymphedema caused by a mutation that inactivates VEGFR3 tyrosine kinase

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900186-6

7 January 2021

Two transmembrane aspartates in presenilin-1 required for presenilin endoproteolysis and gamma-secretase activity

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900186-6

7 January 2021

A Neural Network Method for Identification of Prokaryotic and Eukaryotic Signal Peptides and Prediction of their Cleavage Sites

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900186-6

7 January 2021

Database resources of the National Center for Biotechnology Information

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900186-6

7 January 2021

SMART: a web-based tool for the study of genetically mobile domains

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900186-6

7 January 2021

Increased coverage of protein families with the blocks database servers

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900186-6

7 January 2021

PRINTS-S: the database formerly known as PRINTS.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900186-6

7 January 2021

Profile hidden Markov models

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900186-6

7 January 2021

The PSIPRED protein structure prediction server

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900186-6

7 January 2021

Touring protein fold space with Dali/FSSP

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900186-6

7 January 2021

SWISS-MODEL and the Swiss-PdbViewer: an environment for comparative protein modeling

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900186-6

7 January 2021

Threading a database of protein cores

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900186-6

7 January 2021

OMIM passes the 1,000-disease-gene mark

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900186-6

7 January 2021

10.1016/S0959-437X(00)00186-6

Identifiers

DOI

1 reference

26 June 2017

1 reference

PubMed ID

11377959