-
Rare coding variation provides insight into the genetic architecture and phenotypic context of autism. Nat Genet. 2022 09; 54(9):1320-1331.
Fu JM, Satterstrom FK, Peng M, Brand H, Collins RL, Dong S, Wamsley B, Klei L, Wang L, Hao SP, Stevens CR, Cusick C, Babadi M, Banks E, Collins B, Dodge S, Gabriel SB, Gauthier L, Lee SK, Liang L, Ljungdahl A, Mahjani B, Sloofman L, Smirnov AN, Barbosa M, Betancur C, Brusco A, Chung BHY, Cook EH, Cuccaro ML, Domenici E, Ferrero GB, Gargus JJ, Herman GE, Hertz-Picciotto I, Maciel P, Manoach DS, Passos-Bueno MR, Persico AM, Renieri A, Sutcliffe JS, Tassone F, Trabetti E, Campos G, Cardaropoli S, Carli D, Chan MCY, Fallerini C, Giorgio E, Girardi AC, Hansen-Kiss E, Lee SL, Lintas C, Ludena Y, Nguyen R, Pavinato L, Pericak-Vance M, Pessah IN, Schmidt RJ, Smith M, Costa CIS, Trajkova S, Wang JYT, Yu MHC, Autism Sequencing Consortium (ASC), Broad Institute Center for Common Disease Genomics (Broad-CCDG), iPSYCH-BROAD Consortium, Cutler DJ, De Rubeis S, Buxbaum JD, Daly MJ, Devlin B, Roeder K, Sanders SJ, Talkowski ME. PMID: 35982160; PMCID: PMC9653013.
View in:
PubMed Mentions:
104 Fields:
Translation:
Humans
-
Diffuse large B-cell non-Hodgkin's lymphoma in Gaucher disease. Mol Genet Metab Rep. 2020 Dec; 25:100663.
Bonesteele G, Gargus JJ, Curtin E, Tang M, Rosenbloom B, Kimonis V. PMID: 33101982; PMCID: PMC7578544.
View in:
PubMed Mentions:
2
-
Intracellular calcium dysregulation in autism spectrum disorder: An analysis of converging organelle signaling pathways. Biochim Biophys Acta Mol Cell Res. 2018 11; 1865(11 Pt B):1718-1732.
Nguyen RL, Medvedeva YV, Ayyagari TE, Schmunk G, Gargus JJ. PMID: 30992134.
View in:
PubMed Mentions:
22 Fields:
Translation:
HumansAnimalsCells
-
High-throughput screen detects calcium signaling dysfunction in typical sporadic autism spectrum disorder. Sci Rep. 2017 02 01; 7:40740.
Schmunk G, Nguyen RL, Ferguson DL, Kumar K, Parker I, Gargus JJ. PMID: 28145469; PMCID: PMC5286408.
View in:
PubMed Mentions:
18 Fields:
Translation:
HumansCells
-
Shared functional defect in IP₃R-mediated calcium signaling in diverse monogenic autism syndromes. Transl Psychiatry. 2015 Sep 22; 5:e643.
Schmunk G, Boubion BJ, Smith IF, Parker I, Gargus JJ. PMID: 26393489; PMCID: PMC5068815.
View in:
PubMed Mentions:
21 Fields:
Translation:
HumansCells
-
The novel desmin mutant p.A120D impairs filament formation, prevents intercalated disk localization, and causes sudden cardiac death. Circ Cardiovasc Genet. 2013 Dec; 6(6):615-23.
Brodehl A, Dieding M, Klauke B, Dec E, Madaan S, Huang T, Gargus J, Fatima A, Saric T, Cakar H, Walhorn V, Tönsing K, Skrzipczyk T, Cebulla R, Gerdes D, Schulz U, Gummert J, Svendsen JH, Olesen MS, Anselmetti D, Christensen AH, Kimonis V, Milting H. PMID: 24200904.
View in:
PubMed Mentions:
26 Fields:
Translation:
HumansAnimalsCells
-
Channelopathy pathogenesis in autism spectrum disorders. Front Genet. 2013 Nov 05; 4:222.
Schmunk G, Gargus JJ. PMID: 24204377; PMCID: PMC3817418.
View in:
PubMed Mentions:
56
-
Mild phenotype in a male with pyruvate dehydrogenase complex deficiency associated with novel hemizygous in-frame duplication of the E1α subunit gene (PDHA1). Neuropediatrics. 2014 Feb; 45(1):56-60.
Steller J, Gargus JJ, Gibbs LH, Hasso AN, Kimonis VE. PMID: 23572181.
View in:
PubMed Mentions:
11 Fields:
Translation:
Humans
-
Mitochondrial and ion channel gene alterations in autism. Biochim Biophys Acta. 2012 Oct; 1817(10):1796-802.
Smith M, Flodman PL, Gargus JJ, Simon MT, Verrell K, Haas R, Reiner GE, Naviaux R, Osann K, Spence MA, Wallace DC. PMID: 22538295; PMCID: PMC3423964.
View in:
PubMed Mentions:
26 Fields:
Translation:
HumansCellsCTClinical Trials
-
Genetic calcium signaling abnormalities in the central nervous system: seizures, migraine, and autism. Ann N Y Acad Sci. 2009 Jan; 1151:133-56.
Gargus JJ. PMID: 19154521.
View in:
PubMed Mentions:
46 Fields:
Translation:
HumansCells
-
Novel mutation confirms seizure locus SCN1A is also familial hemiplegic migraine locus FHM3. Pediatr Neurol. 2007 Dec; 37(6):407-10.
Gargus JJ, Tournay A. PMID: 18021921; PMCID: PMC2151385.
View in:
PubMed Mentions:
17 Fields:
Translation:
Humans
-
Rapid identification of mitochondrial DNA (mtDNA) mutations in neuromuscular disorders by using surveyor strategy. Mitochondrion. 2008 Mar; 8(2):136-45.
Bannwarth S, Procaccio V, Rouzier C, Fragaki K, Poole J, Chabrol B, Desnuelle C, Pouget J, Azulay JP, Attarian S, Pellissier JF, Gargus JJ, Abdenur JE, Mozaffar T, Calvas P, Labauge P, Pages M, Wallace DC, Lambert JC, Paquis-Flucklinger V. PMID: 18078792.
View in:
PubMed Mentions:
6 Fields:
Translation:
Humans
-
Serotonin targets the DAF-16/FOXO signaling pathway to modulate stress responses. Cell Metab. 2006 Dec; 4(6):429-40.
Liang B, Moussaif M, Kuan CJ, Gargus JJ, Sze JY. PMID: 17141627.
View in:
PubMed Mentions:
54 Fields:
Translation:
AnimalsCells
-
[ATP1A2: a key player in familial hemiplegic migraine]. Med Sci (Paris). 2006 Apr; 22(4):341-3.
Blostein R, Segall L, Gargus JJ. PMID: 16597394.
View in:
PubMed Mentions:
2 Fields:
Translation:
HumansAnimalsCells
-
Ion channel functional candidate genes in multigenic neuropsychiatric disease. Biol Psychiatry. 2006 Jul 15; 60(2):177-85.
Gargus JJ. PMID: 16497276.
View in:
PubMed Mentions:
33 Fields:
Translation:
Humans
-
Alterations in the alpha2 isoform of Na,K-ATPase associated with familial hemiplegic migraine type 2. Proc Natl Acad Sci U S A. 2005 Aug 02; 102(31):11106-11.
Segall L, Mezzetti A, Scanzano R, Gargus JJ, Purisima E, Blostein R. PMID: 16037212; PMCID: PMC1178013.
View in:
PubMed Mentions:
27 Fields:
Translation:
HumansAnimalsCells
-
Relative carnitine deficiency in autism. J Autism Dev Disord. 2004 Dec; 34(6):615-23.
Filipek PA, Juranek J, Nguyen MT, Cummings C, Gargus JJ. PMID: 15679182.
View in:
PubMed Mentions:
63 Fields:
Translation:
Humans
-
Kinetic alterations due to a missense mutation in the Na,K-ATPase alpha2 subunit cause familial hemiplegic migraine type 2. J Biol Chem. 2004 Oct 15; 279(42):43692-6.
Segall L, Scanzano R, Kaunisto MA, Wessman M, Palotie A, Gargus JJ, Blostein R. PMID: 15308625.
View in:
PubMed Mentions:
17 Fields:
Translation:
HumansAnimalsCells
-
A novel missense ATP1A2 mutation in a Finnish family with familial hemiplegic migraine type 2. Neurogenetics. 2004 Jun; 5(2):141-6.
Kaunisto MA, Harno H, Vanmolkot KR, Gargus JJ, Sun G, Hämäläinen E, Liukkonen E, Kallela M, van den Maagdenberg AM, Frants RR, Färkkilä M, Palotie A, Wessman M. PMID: 15133718.
View in:
PubMed Mentions:
16 Fields:
Translation:
HumansCells
-
Acute hemodialysis for hyperammonemia in small neonates. Pediatr Nephrol. 2004 Apr; 19(4):390-5.
Rajpoot DK, Gargus JJ. PMID: 14997371.
View in:
PubMed Mentions:
14 Fields:
Translation:
Humans
-
SK3-1C, a dominant-negative suppressor of SKCa and IKCa channels. J Biol Chem. 2004 Feb 20; 279(8):6893-904.
Kolski-Andreaco A, Tomita H, Shakkottai VG, Gutman GA, Cahalan MD, Gargus JJ, Chandy KG. PMID: 14638680.
View in:
PubMed Mentions:
15 Fields:
Translation:
HumansAnimalsCells
-
Identification of a novel candidate gene in the iron-sulfur pathway implicated in ataxia-susceptibility: human gene encoding HscB, a J-type co-chaperone. J Hum Genet. 2003; 48(8):415-419.
Sun G, Gargus JJ, Ta DT, Vickery LE. PMID: 12938016.
View in:
PubMed Mentions:
9 Fields:
Translation:
Cells
-
Mitochondrial dysfunction in autistic patients with 15q inverted duplication. Ann Neurol. 2003 Jun; 53(6):801-4.
Filipek PA, Juranek J, Smith M, Mays LZ, Ramos ER, Bocian M, Masser-Frye D, Laulhere TM, Modahl C, Spence MA, Gargus JJ. PMID: 12783428.
View in:
PubMed Mentions:
51 Fields:
Translation:
HumansCells
-
Novel truncated isoform of SK3 potassium channel is a potent dominant-negative regulator of SK currents: implications in schizophrenia. Mol Psychiatry. 2003 May; 8(5):524-35, 460.
Tomita H, Shakkottai VG, Gutman GA, Sun G, Bunney WE, Cahalan MD, Chandy KG, Gargus JJ. PMID: 12808432.
View in:
PubMed Mentions:
26 Fields:
Translation:
HumansAnimalsCells
-
Unraveling monogenic channelopathies and their implications for complex polygenic disease. Am J Hum Genet. 2003 Apr; 72(4):785-803.
Gargus JJ. PMID: 12629596; PMCID: PMC1180344.
View in:
PubMed Mentions:
15 Fields:
Translation:
HumansAnimals
-
Respiratory complex II defect in siblings associated with a symptomatic secondary block in fatty acid oxidation. J Inherit Metab Dis. 2003; 26(7):659-70.
Gargus JJ, Boyle K, Bocian M, Roe DS, Vianey-Saban C, Roe CR. PMID: 14707514.
View in:
PubMed Mentions:
5 Fields:
Translation:
HumansCells
-
Progressive neurologic disability in methylmalonic acidemia despite transplantation of the liver. Eur J Pediatr. 2002 Jul; 161(7):377-9.
Nyhan WL, Gargus JJ, Boyle K, Selby R, Koch R. PMID: 12111189.
View in:
PubMed Mentions:
32 Fields:
Translation:
Humans
-
Phenotype and genotype variation in primary carnitine deficiency. Genet Med. 2001 Nov-Dec; 3(6):387-92.
Wang Y, Korman SH, Ye J, Gargus JJ, Gutman A, Taroni F, Garavaglia B, Longo N. PMID: 11715001.
View in:
PubMed Mentions:
26 Fields:
Translation:
HumansAnimalsCells
-
Design and characterization of a highly selective peptide inhibitor of the small conductance calcium-activated K+ channel, SkCa2. J Biol Chem. 2001 Nov 16; 276(46):43145-51.
Shakkottai VG, Regaya I, Wulff H, Fajloun Z, Tomita H, Fathallah M, Cahalan MD, Gargus JJ, Sabatier JM, Chandy KG. PMID: 11527975.
View in:
PubMed Mentions:
36 Fields:
Translation:
HumansAnimalsCells
-
Nuclear localization and dominant-negative suppression by a mutant SKCa3 N-terminal channel fragment identified in a patient with schizophrenia. J Biol Chem. 2001 Jul 27; 276(30):27753-6.
Miller MJ, Rauer H, Tomita H, Rauer H, Gargus JJ, Gutman GA, Cahalan MD, Chandy KG. PMID: 11395478.
View in:
PubMed Mentions:
21 Fields:
Translation:
HumansAnimalsCells
-
Genomic organization and promoter analysis of human KCNN3 gene. J Hum Genet. 2001; 46(8):463-70.
Sun G, Tomita H, Shakkottai VG, Gargus JJ. PMID: 11501944.
View in:
PubMed Mentions:
10 Fields:
Translation:
HumansAnimalsCells
-
Lack of linkage or association between schizophrenia and the polymorphic trinucleotide repeat within the KCNN3 gene on chromosome 1q21. Am J Med Genet. 1999 Aug 20; 88(4):348-51.
Antonarakis SE, Blouin JL, Lasseter VK, Gehrig C, Radhakrishna U, Nestadt G, Housman DE, Kazazian HH, Kalman K, Gutman G, Fantino E, Chandy KG, Gargus JJ, Pulver AE. PMID: 10402501.
View in:
PubMed Mentions:
6 Fields:
Translation:
HumansCells
-
hKCa3/KCNN3 potassium channel gene: association of longer CAG repeats with schizophrenia in Israeli Ashkenazi Jews, expression in human tissues and localization to chromosome 1q21. Mol Psychiatry. 1999 May; 4(3):254-60.
Dror V, Shamir E, Ghanshani S, Kimhi R, Swartz M, Barak Y, Weizman R, Avivi L, Litmanovitch T, Fantino E, Kalman K, Jones EG, Chandy KG, Gargus JJ, Gutman GA, Navon R. PMID: 10395215.
View in:
PubMed Mentions:
17 Fields:
Translation:
HumansCells
-
A piece in the puzzle: an ion channel candidate gene for schizophrenia. Mol Med Today. 1998 Dec; 4(12):518-24.
Gargus JJ, Fantino E, Gutman GA. PMID: 9866821.
View in:
PubMed Mentions:
10 Fields:
Translation:
HumansCells
-
Transmission disequilibrium analysis of a triplet repeat within the hKCa3 gene using family trios with schizophrenia. Biochem Biophys Res Commun. 1998 Oct 20; 251(2):662-5.
Li T, Hu X, Chandy KG, Fantino E, Kalman K, Gutman G, Gargus JJ, Freeman B, Murray RM, Dawson E, Liu X, Bruinvels AT, Sham PC, Collier DA. PMID: 9792831.
View in:
PubMed Mentions:
5 Fields:
Translation:
HumansCells
-
CCG1/TAF(II)250 regulates epidermal growth factor receptor gene transcription in cell cycle mutant ts13. J Cell Physiol. 1998 Sep; 176(3):642-7.
Vargas GA, Isas JM, Fantino E, Gargus JJ, Haigler HT. PMID: 9699517.
View in:
PubMed Mentions:
2 Fields:
Translation:
AnimalsCells
-
Human calcium-activated potassium channel gene KCNN4 maps to chromosome 19q13.2 in the region deleted in diamond-blackfan anemia. Genomics. 1998 Jul 01; 51(1):160-1.
Ghanshani S, Coleman M, Gustavsson P, Wu AC, Gargus JJ, Gutman GA, Dahl N, Mohrenweiser H, Chandy KG. PMID: 9693050.
View in:
PubMed Mentions:
10 Fields:
Translation:
HumansCells
-
Further support for an association between a polymorphic CAG repeat in the hKCa3 gene and schizophrenia. Mol Psychiatry. 1998 May; 3(3):266-9.
Bowen T, Guy CA, Craddock N, Cardno AG, Williams NM, Spurlock G, Murphy KC, Jones LA, Gray M, Sanders RD, McCarthy G, Chandy KG, Fantino E, Kalman K, Gutman GA, Gargus JJ, Williams J, McGuffin P, Owen MJ, O'Donovan MC. PMID: 9672903.
View in:
PubMed Mentions:
9 Fields:
Translation:
HumansCells
-
Isolation of a novel potassium channel gene hSKCa3 containing a polymorphic CAG repeat: a candidate for schizophrenia and bipolar disorder? Mol Psychiatry. 1998 Jan; 3(1):32-7.
Chandy KG, Fantino E, Wittekindt O, Kalman K, Tong LL, Ho TH, Gutman GA, Crocq MA, Ganguli R, Nimgaonkar V, Morris-Rosendahl DJ, Gargus JJ. PMID: 9491810.
View in:
PubMed Mentions:
44 Fields:
Translation:
HumansCells
-
Mutations causing achondroplasia and thanatophoric dysplasia alter bFGF-induced calcium signals in human diploid fibroblasts. Hum Mol Genet. 1997 May; 6(5):681-8.
Nguyen HB, Estacion M, Gargus JJ. PMID: 9158142.
View in:
PubMed Mentions:
2 Fields:
Translation:
HumansCells
-
Reduced epidermal growth factor receptor expression in hypohidrotic ectodermal dysplasia and Tabby mice. J Clin Invest. 1996 Jun 01; 97(11):2426-32.
Vargas GA, Fantino E, George-Nascimento C, Gargus JJ, Haigler HT. PMID: 8647934; PMCID: PMC507327.
View in:
PubMed Mentions:
6 Fields:
Translation:
HumansAnimalsCells
-
Calcium is permeable through a maitotoxin-activated nonselective cation channel in mouse L cells. Am J Physiol. 1996 Apr; 270(4 Pt 1):C1145-52.
Estacion M, Nguyen HB, Gargus JJ. PMID: 8928742.
View in:
PubMed Mentions:
4 Fields:
Translation:
AnimalsCells