2023
LRRC23 truncation impairs radial spoke 3 head assembly and sperm motility underlying male infertility
Hwang J, Chai P, Nawaz S, Choi J, Lopez-Giraldez F, Hussain S, Bilguvar K, Mane S, Lifton R, Ahmad W, Zhang K, Chung J. LRRC23 truncation impairs radial spoke 3 head assembly and sperm motility underlying male infertility. ELife 2023, 12: rp90095. PMID: 38091523, PMCID: PMC10721216, DOI: 10.7554/elife.90095.Peer-Reviewed Original Research
2018
Genetic variants in the LAMA5 gene in pediatric nephrotic syndrome
Braun DA, Warejko JK, Ashraf S, Tan W, Daga A, Schneider R, Hermle T, Jobst-Schwan T, Widmeier E, Majmundar AJ, Nakayama M, Schapiro D, Rao J, Schmidt JM, Hoogstraten CA, Hugo H, Bakkaloglu SA, Kari JA, Desoky S, Daouk G, Mane S, Lifton RP, Shril S, Hildebrandt F. Genetic variants in the LAMA5 gene in pediatric nephrotic syndrome. Nephrology Dialysis Transplantation 2018, 34: 485-493. PMID: 29534211, PMCID: PMC6399483, DOI: 10.1093/ndt/gfy028.Peer-Reviewed Original ResearchConceptsSteroid-resistant NSNephrotic syndromeDevelopment of NSMonogenic causesChronic kidney diseaseChildhood-onset casesPediatric nephrotic syndromeWhole-exome sequencingGenetic variantsGlomerular basement membranePediatric NSSRNS genesImmunosuppressive therapyPediatric patientsClinical outcomesKidney diseaseMouse modelFamilial occurrenceUnknown significanceEarly onsetHomozygous variantExome sequencingDiseaseNS phenotypeDisease management
2014
Mutation of NLRC4 causes a syndrome of enterocolitis and autoinflammation
Romberg N, Al Moussawi K, Nelson-Williams C, Stiegler AL, Loring E, Choi M, Overton J, Meffre E, Khokha MK, Huttner AJ, West B, Podoltsev NA, Boggon TJ, Kazmierczak BI, Lifton RP. Mutation of NLRC4 causes a syndrome of enterocolitis and autoinflammation. Nature Genetics 2014, 46: 1135-1139. PMID: 25217960, PMCID: PMC4177367, DOI: 10.1038/ng.3066.Peer-Reviewed Original ResearchRecurrent activating mutation in PRKACA in cortisol-producing adrenal tumors
Goh G, Scholl UI, Healy JM, Choi M, Prasad ML, Nelson-Williams C, Kunstman JW, Korah R, Suttorp AC, Dietrich D, Haase M, Willenberg HS, Stålberg P, Hellman P, Åkerström G, Björklund P, Carling T, Lifton RP. Recurrent activating mutation in PRKACA in cortisol-producing adrenal tumors. Nature Genetics 2014, 46: 613-617. PMID: 24747643, PMCID: PMC4074779, DOI: 10.1038/ng.2956.Peer-Reviewed Original ResearchAdolescentAdrenal Gland NeoplasmsAdultAgedAmino Acid SequenceBase SequenceCdc42 GTP-Binding ProteinCell ProliferationCyclic AMP-Dependent Protein Kinase Catalytic SubunitsCyclin-Dependent Kinase Inhibitor p16DNA Copy Number VariationsExomeFemaleGene DeletionGene DosageHEK293 CellsHumansHydrocortisoneMaleMiddle AgedMolecular Sequence DataMutationPhosphorylationSequence Analysis, DNASequence Homology, Amino Acid
2013
De novo mutations in histone-modifying genes in congenital heart disease
Zaidi S, Choi M, Wakimoto H, Ma L, Jiang J, Overton JD, Romano-Adesman A, Bjornson RD, Breitbart RE, Brown KK, Carriero NJ, Cheung YH, Deanfield J, DePalma S, Fakhro KA, Glessner J, Hakonarson H, Italia MJ, Kaltman JR, Kaski J, Kim R, Kline JK, Lee T, Leipzig J, Lopez A, Mane SM, Mitchell LE, Newburger JW, Parfenov M, Pe’er I, Porter G, Roberts AE, Sachidanandam R, Sanders SJ, Seiden HS, State MW, Subramanian S, Tikhonova IR, Wang W, Warburton D, White PS, Williams IA, Zhao H, Seidman JG, Brueckner M, Chung WK, Gelb BD, Goldmuntz E, Seidman CE, Lifton RP. De novo mutations in histone-modifying genes in congenital heart disease. Nature 2013, 498: 220-223. PMID: 23665959, PMCID: PMC3706629, DOI: 10.1038/nature12141.Peer-Reviewed Original ResearchRecessive mutations in DGKE cause atypical hemolytic-uremic syndrome
Lemaire M, Frémeaux-Bacchi V, Schaefer F, Choi M, Tang WH, Le Quintrec M, Fakhouri F, Taque S, Nobili F, Martinez F, Ji W, Overton JD, Mane SM, Nürnberg G, Altmüller J, Thiele H, Morin D, Deschenes G, Baudouin V, Llanas B, Collard L, Majid MA, Simkova E, Nürnberg P, Rioux-Leclerc N, Moeckel GW, Gubler MC, Hwa J, Loirat C, Lifton RP. Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome. Nature Genetics 2013, 45: 531-536. PMID: 23542698, PMCID: PMC3719402, DOI: 10.1038/ng.2590.Peer-Reviewed Original ResearchMeSH KeywordsAcute Kidney InjuryAtypical Hemolytic Uremic SyndromeChildChild, PreschoolDiacylglycerol KinaseExomeFemaleGenes, RecessiveHemolytic-Uremic SyndromeHumansImmunoenzyme TechniquesInfantMaleMolecular Sequence DataMutationRenal Insufficiency, ChronicThrombocytopeniaThrombotic Microangiopathies
2012
Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities
Boyden LM, Choi M, Choate KA, Nelson-Williams CJ, Farhi A, Toka HR, Tikhonova IR, Bjornson R, Mane SM, Colussi G, Lebel M, Gordon RD, Semmekrot BA, Poujol A, Välimäki MJ, De Ferrari ME, Sanjad SA, Gutkin M, Karet FE, Tucci JR, Stockigt JR, Keppler-Noreuil KM, Porter CC, Anand SK, Whiteford ML, Davis ID, Dewar SB, Bettinelli A, Fadrowski JJ, Belsha CW, Hunley TE, Nelson RD, Trachtman H, Cole TR, Pinsk M, Bockenhauer D, Shenoy M, Vaidyanathan P, Foreman JW, Rasoulpour M, Thameem F, Al-Shahrouri HZ, Radhakrishnan J, Gharavi AG, Goilav B, Lifton RP. Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities. Nature 2012, 482: 98-102. PMID: 22266938, PMCID: PMC3278668, DOI: 10.1038/nature10814.Peer-Reviewed Original ResearchMeSH KeywordsAdaptor Proteins, Signal TransducingAmino Acid SequenceAnimalsBase SequenceBlood PressureCarrier ProteinsCohort StudiesCullin ProteinsElectrolytesExonsFemaleGene Expression ProfilingGenes, DominantGenes, RecessiveGenotypeHomeostasisHumansHydrogen-Ion ConcentrationHypertensionMaleMiceMicrofilament ProteinsModels, MolecularMolecular Sequence DataMutationPhenotypePotassiumPseudohypoaldosteronismSodium ChlorideWater-Electrolyte Imbalance
2011
K+ Channel Mutations in Adrenal Aldosterone-Producing Adenomas and Hereditary Hypertension
Choi M, Scholl UI, Yue P, Björklund P, Zhao B, Nelson-Williams C, Ji W, Cho Y, Patel A, Men CJ, Lolis E, Wisgerhof MV, Geller DS, Mane S, Hellman P, Westin G, Åkerström G, Wang W, Carling T, Lifton RP. K+ Channel Mutations in Adrenal Aldosterone-Producing Adenomas and Hereditary Hypertension. Science 2011, 331: 768-772. PMID: 21311022, PMCID: PMC3371087, DOI: 10.1126/science.1198785.Peer-Reviewed Original ResearchMeSH KeywordsAdrenal Cortex NeoplasmsAdrenal GlandsAdrenocortical AdenomaAldosteroneCell LineCell ProliferationFemaleG Protein-Coupled Inwardly-Rectifying Potassium ChannelsHumansHyperaldosteronismHyperplasiaHypertensionMaleMutant ProteinsMutationPotassiumProtein MultimerizationSodiumZona GlomerulosaConceptsAldosterone-producing adrenal adenomaSevere hypertensionCell proliferationHormone productionAdrenal aldosterone-producing adenomaBilateral adrenal hyperplasiaSubset of patientsAldosterone-producing adenomaAdrenal glomerulosa cellsAdrenal adenomaAldosterone productionEndocrine tumorsGlomerulosa cellsAdrenal hyperplasiaRecurrent somatic mutationsCalcium entryKCNJ5 mutationsHypertensionCell depolarizationHereditary hypertensionChannel mutationsSomatic mutationsAdenomasMendelian formsSodium conductance
2010
Mitotic Recombination in Patients with Ichthyosis Causes Reversion of Dominant Mutations in KRT10
Choate KA, Lu Y, Zhou J, Choi M, Elias PM, Farhi A, Nelson-Williams C, Crumrine D, Williams ML, Nopper AJ, Bree A, Milstone LM, Lifton RP. Mitotic Recombination in Patients with Ichthyosis Causes Reversion of Dominant Mutations in KRT10. Science 2010, 330: 94-97. PMID: 20798280, PMCID: PMC3085938, DOI: 10.1126/science.1192280.Peer-Reviewed Original ResearchAmino Acid SequenceCell NucleolusChromosome MappingChromosomes, Human, Pair 17FemaleFrameshift MutationHumansIchthyosiform Erythroderma, CongenitalIntermediate FilamentsKeratin-10KeratinsLoss of HeterozygosityMaleMitosisMolecular Sequence DataMosaicismMutant ProteinsRecombination, GeneticSelection, GeneticSkin