2018
A noncoding variant in GANAB explains isolated polycystic liver disease (PCLD) in a large family
Besse W, Choi J, Ahram D, Mane S, Sanna‐Cherchi S, Torres V, Somlo S. A noncoding variant in GANAB explains isolated polycystic liver disease (PCLD) in a large family. Human Mutation 2018, 39: 378-382. PMID: 29243290, PMCID: PMC5805583, DOI: 10.1002/humu.23383.Peer-Reviewed Original ResearchConceptsLoss-of-function variantsSequence analysis pipelineWhole-exome sequencing analysisExome sequencing dataExome sequencing analysisBase pair deletionSkipping of exonIsolated polycystic liver diseaseNoncoding variantsLinkage analysisDisease genesSequence dataGene discoveryMinigene assayLinkage disequilibriumCoding regionSNP genotypingSequence analysisGenomic evaluationPolycystic liver diseaseSplice donorIdentified mutationsMutation detectionPair deletionGANAB
2014
NGLY1 mutation causes neuromotor impairment, intellectual disability, and neuropathy
Caglayan AO, Comu S, Baranoski JF, Parman Y, Kaymakçalan H, Akgumus GT, Caglar C, Dolen D, Erson-Omay EZ, Harmanci AS, Mishra-Gorur K, Freeze HH, Yasuno K, Bilguvar K, Gunel M. NGLY1 mutation causes neuromotor impairment, intellectual disability, and neuropathy. European Journal Of Medical Genetics 2014, 58: 39-43. PMID: 25220016, PMCID: PMC4804755, DOI: 10.1016/j.ejmg.2014.08.008.Peer-Reviewed Original ResearchConceptsN-glycanase 1Proteasome-mediated degradationConserved enzymeFrame-shift mutationApparent intellectual disabilityBase pair deletionNeuromotor impairmentNovel homozygous frame-shift mutationHomozygous frame-shift mutationNeuronal cellsPair deletionAmyotrophic lateral sclerosisIntellectual disabilityMutationsProteinNeurological functionCorneal opacityNeurologic diseaseLateral sclerosisParkinson's diseaseProgressive lossDiseaseCytoplasmImpairmentDeletion
2013
Evolution of an Attenuated HIV-1 Isolate in an Elite Suppressor
Salgado M, Gandhi S, Buckheit R, Berkenblit G, Blankson J. Evolution of an Attenuated HIV-1 Isolate in an Elite Suppressor. AIDS Research And Human Retroviruses 2013, 30: 284-288. PMID: 24117037, PMCID: PMC3938915, DOI: 10.1089/aid.2013.0229.Peer-Reviewed Original Research
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