Biochemical, Genetic and Clinical Diagnostic Approaches to Autism-Associated Inherited Metabolic Disorders.
Genes
Senarathne, Udara D UD; Indika, Neluwa-Liyanage R NR; Jezela-Stanek, Aleksandra A; Ciara, Elżbieta E; Frye, Richard E RE; Chen, Cliff C; Stepien, Karolina M KM
Network expansion of genetic associations defines a pleiotropy map of human cell biology.
Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23
Variant appearance in text: DHCR7: 278C>T; Thr93Met
Sterols lower energetic barriers of membrane bending and fission necessary for efficient clathrin-mediated endocytosis.
Cell Reports
Anderson, Ruthellen H RH; Sochacki, Kem A KA; Vuppula, Harika H; Scott, Brandon L BL; Bailey, Elizabeth M EM; Schultz, Maycie M MM; Kerkvliet, Jason G JG; Taraska, Justin W JW; Hoppe, Adam D AD; Francis, Kevin R KR
Carrier frequency and incidence estimation of Smith-Lemli-Opitz syndrome in East Asian populations by Genome Aggregation Database (gnomAD) based analysis.
Orphanet Journal Of Rare Diseases
Park, Jong Eun JE; Lee, Taeheon T; Ha, Kyeongsu K; Ki, Chang-Seok CS
Visualizing Cholesterol in the Brain by On-Tissue Derivatization and Quantitative Mass Spectrometry Imaging.
Analytical Chemistry
Angelini, Roberto R; Yutuc, Eylan E; Wyatt, Mark F MF; Newton, Jillian J; Yusuf, Fowzi A FA; Griffiths, Lauren L; Cooze, Benjamin J BJ; El Assad, Dana D; Frache, Gilles G; Rao, Wei W; Allen, Luke B LB; Korade, Zeljka Z; Nguyen, Thu T A TTA; Rathnayake, Rathnayake A C RAC; Cologna, Stephanie M SM; Howell, Owain W OW; Clench, Malcolm R MR; Wang, Yuqin Y; Griffiths, William J WJ
Prescription Medications Alter Neuronal and Glial Cholesterol Synthesis.
Acs Chemical Neuroscience
Tallman, Keri A KA; Allen, Luke B LB; Klingelsmith, Korinne B KB; Anderson, Allison A; Genaro-Mattos, Thiago C TC; Mirnics, Károly K; Porter, Ned A NA; Korade, Zeljka Z
Exploring the biological role of postzygotic and germinal de novo mutations in ASD.
Scientific Reports
Alonso-Gonzalez, A A; Calaza, M M; Amigo, J J; González-Peñas, J J; Martínez-Regueiro, R R; Fernández-Prieto, M M; Parellada, M M; Arango, C C; Rodriguez-Fontenla, Cristina C; Carracedo, A A
Dietary cholesterol supplementation and inhibitory factor 1 serum levels in two dizygotic Smith-Lemli-Opitz syndrome twins: a case report.
Italian Journal Of Pediatrics
Delvecchio, Maurizio M; Rapone, Biagio B; Simonetti, Simonetta S; Fecarotta, Simona S; De Carlo, Graziana G; Favoino, Elvira E; Loverro, Maria Teresa MT; Romano, Anna Maria Isdraele AMI; Taurino, Federica F; Di Naro, Edoardo E; Gnoni, Antonio A
mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.
Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Plos Genetics
Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM
Publication Date: 2019-10
Variant appearance in text: DHCR7: 278C>T; Thr93Met; rs80338853
REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.
Scientific Reports
Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
American Journal Of Human Genetics
Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN
Publication Date: 2019-02-07
Variant appearance in text: DHCR7: T93M; rs80338853
Compromised phagosome maturation underlies RPE pathology in cell culture and whole animal models of Smith-Lemli-Opitz Syndrome.
Autophagy
Ramachandra Rao, Sriganesh S; Pfeffer, Bruce A BA; Más Gómez, Néstor N; Skelton, Lara A LA; Keiko, Ueda U; Sparrow, Janet R JR; Rowsam, Aryn M AM; Mitchell, Claire H CH; Fliesler, Steven J SJ
Smith-Lemli-Opitz Mutations in Unexplained Stillbirths.
American Journal Of Perinatology
Gibbins, Karen J KJ; Reddy, Uma M UM; Saade, George R GR; Goldenberg, Robert L RL; Dudley, Donald J DJ; Parker, Corette B CB; Thorsten, Vanessa V; Pinar, Halit H; Bukowski, Radek R; Hogue, Carol J CJ; Silver, Robert M RM
iPhemap: an atlas of phenotype to genotype relationships of human iPSC models of neurological diseases.
Embo Molecular Medicine
Hollingsworth, Ethan W EW; Vaughn, Jacob E JE; Orack, Josh C JC; Skinner, Chelsea C; Khouri, Jamil J; Lizarraga, Sofia B SB; Hester, Mark E ME; Watanabe, Fumihiro F; Kosik, Kenneth S KS; Imitola, Jaime J
The population genetics of human disease: The case of recessive, lethal mutations.
Plos Genetics
Amorim, Carlos Eduardo G CEG; Gao, Ziyue Z; Baker, Zachary Z; Diesel, José Francisco JF; Simons, Yuval B YB; Haque, Imran S IS; Pickrell, Joseph J; Przeworski, Molly M
Publication Date: 2017-09
Variant appearance in text: DHCR7: 278C>T; Thr93Met; rs80338853
A placebo-controlled trial of simvastatin therapy in Smith-Lemli-Opitz syndrome.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Wassif, Christopher A CA; Kratz, Lisa L; Sparks, Susan E SE; Wheeler, Courtney C; Bianconi, Simona S; Gropman, Andrea A; Calis, Karim A KA; Kelley, Richard I RI; Tierney, Elaine E; Porter, Forbes D FD
The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.
Genome Medicine
Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM
Publication Date: 2016-07-26
Variant appearance in text: DHCR7: 278C>T; T93M; rs80338853
Delivery of the 7-dehydrocholesterol reductase gene to the central nervous system using adeno-associated virus vector in a mouse model of Smith-Lemli-Opitz Syndrome.
Molecular Genetics And Metabolism Reports
Pasta, Saloni S; Akhile, Omoye O; Tabron, Dorothy D; Ting, Flora F; Shackleton, Cedric C; Watson, Gordon G
Elevated Autophagy and Mitochondrial Dysfunction in the Smith-Lemli-Opitz Syndrome.
Molecular Genetics And Metabolism Reports
Chang, Shaohua S; Ren, Gongyi G; Steiner, Robert D RD; Merkens, Louise L; Roullet, Jean-Baptiste JB; Korade, Zeljka Z; DiMuzio, Paul J PJ; Tulenko, Thomas N TN
Age-related mutations associated with clonal hematopoietic expansion and malignancies.
Nature Medicine
Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L
Determination of the allelic frequency in Smith-Lemli-Opitz syndrome by analysis of massively parallel sequencing data sets.
Clinical Genetics
Cross, J L JL; Iben, J J; Simpson, C L CL; Thurm, A A; Swedo, S S; Tierney, E E; Bailey-Wilson, J E JE; Biesecker, L G LG; Porter, F D FD; Wassif, C A CA
Publication Date: 2015-06
Variant appearance in text: SLOS: 278C>T; rs80338853
Integrated analysis of germline and somatic variants in ovarian cancer.
Nature Communications
Kanchi, Krishna L KL; Johnson, Kimberly J KJ; Lu, Charles C; McLellan, Michael D MD; Leiserson, Mark D M MD; Wendl, Michael C MC; Zhang, Qunyuan Q; Koboldt, Daniel C DC; Xie, Mingchao M; Kandoth, Cyriac C; McMichael, Joshua F JF; Wyczalkowski, Matthew A MA; Larson, David E DE; Schmidt, Heather K HK; Miller, Christopher A CA; Fulton, Robert S RS; Spellman, Paul T PT; Mardis, Elaine R ER; Druley, Todd E TE; Graubert, Timothy A TA; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Wilson, Richard K RK; Ding, Li L
Analysis by liquid chromatography-mass spectrometry of sterols and oxysterols in brain of the newborn Dhcr7(Δ3-5/T93M) mouse: a model of Smith-Lemli-Opitz syndrome.
Biochemical Pharmacology
Meljon, Anna A; Watson, Gordon L GL; Wang, Yuqin Y; Shackleton, Cedric H L CH; Griffiths, William J WJ
Mutational spectrum of smith-lemli-opitz syndrome patients in hungary.
Molecular Syndromology
Balogh, I I; Koczok, K K; Szabó, G P GP; Török, O O; Hadzsiev, K K; Csábi, G G; Balogh, L L; Dzsudzsák, E E; Ajzner, E E; Szabó, L L; Csákváry, V V; Oláh, A V AV
An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Lazarin, Gabriel A GA; Haque, Imran S IS; Nazareth, Shivani S; Iori, Kevin K; Patterson, A Scott AS; Jacobson, Jessica L JL; Marshall, John R JR; Seltzer, William K WK; Patrizio, Pasquale P; Evans, Eric A EA; Srinivasan, Balaji S BS