Triamterene Functions as an Effective Nonsense Suppression Agent for MPS I-H (Hurler Syndrome).
International Journal Of Molecular Sciences
Siddiqui, Amna A; Dundar, Halil H; Sharma, Jyoti J; Kaczmarczyk, Aneta A; Echols, Josh J; Dai, Yanying Y; Sun, Chuanxi Richard CR; Du, Ming M; Liu, Zhong Z; Zhao, Rui R; Wood, Tim T; Sanders, Shalisa S; Rasmussen, Lynn L; Bostwick, James Robert JR; Augelli-Szafran, Corinne C; Suto, Mark M; Rowe, Steven M SM; Bedwell, David M DM; Keeling, Kim 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: IDUA: 208C>T; Gln70Ter
Embryo tracking system for high-throughput sequencing-based preimplantation genetic testing.
Human Reproduction (Oxford, England)
van Dijk, Wanwisa W; Derks, Kasper K; Drüsedau, Marion M; Meekels, Jeroen J; Koeck, Rebekka R; Essers, Rick R; Dreesen, Joseph J; Coonen, Edith E; de Die-Smulders, Christine C; Stevens, Servi J C SJC; Brunner, Han G HG; van den Wijngaard, Arthur A; Paulussen, Aimée D C ADC; Zamani Esteki, Masoud M
Alpha-L-iduronidase deficiency: A novel mutation resulting in severe early presentation of Mucopolysaccharidosis type I and literature review of the molecular basis.
Clinical Case Reports
Al Zaabi, Nuha Nasser NN; Sirajum, Muneera M; Al-Wawi, Mohd Zaki MZ; Al Suwaiji, Mohammed M
Mucopolysaccharidosis Type I in the Russian Federation and Other Republics of the Former Soviet Union: Molecular Genetic Analysis and Epidemiology.
Frontiers In Molecular Biosciences
Voskoboeva, E Yu EY; Bookina, T M TM; Semyachkina, A N AN; Mikhaylova, S V SV; Vashakmadze, N D ND; Baydakova, G V GV; Zakharova, E Yu EY; Kutsev, S I SI
Publication Date: 2021
Variant appearance in text: IDUA: 208C>T; Gln70Ter
A study of elective genome sequencing and pharmacogenetic testing in an unselected population.
Molecular Genetics & Genomic Medicine
Cochran, Meagan M; East, Kelly K; Greve, Veronica V; Kelly, Melissa M; Kelley, Whitley W; Moore, Troy T; Myers, Richard M RM; Odom, Katherine K; Schroeder, Molly C MC; Bick, David D
Publication Date: 2021-09
Variant appearance in text: IDUA: 208C>T; Gln70Ter
A study of elective genome sequencing and pharmacogenetic testing in an unselected population.
Molecular Genetics & Genomic Medicine
Cochran, Meagan M; East, Kelly K; Greve, Veronica V; Kelly, Melissa M; Kelley, Whitley W; Moore, Troy T; Myers, Richard M RM; Odom, Katherine K; Schroeder, Molly C MC; Bick, David D
Publication Date: 2021-09
Variant appearance in text: IDUA: 208C>T; Gln70Ter
In utero adenine base editing corrects multi-organ pathology in a lethal lysosomal storage disease.
Nature Communications
Bose, Sourav K SK; White, Brandon M BM; Kashyap, Meghana V MV; Dave, Apeksha A; De Bie, Felix R FR; Li, Haiying H; Singh, Kshitiz K; Menon, Pallavi P; Wang, Tiankun T; Teerdhala, Shiva S; Swaminathan, Vishal V; Hartman, Heather A HA; Jayachandran, Sowmya S; Chandrasekaran, Prashant P; Musunuru, Kiran K; Jain, Rajan R; Frank, David B DB; Zoltick, Philip P; Peranteau, William H WH
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Genome Medicine
Stranneheim, Henrik H; Lagerstedt-Robinson, Kristina K; Magnusson, Måns M; Kvarnung, Malin M; Nilsson, Daniel D; Lesko, Nicole N; Engvall, Martin M; Anderlid, Britt-Marie BM; Arnell, Henrik H; Johansson, Carolina Backman CB; Barbaro, Michela M; Björck, Erik E; Bruhn, Helene H; Eisfeldt, Jesper J; Freyer, Christoph C; Grigelioniene, Giedre G; Gustavsson, Peter P; Hammarsjö, Anna A; Hellström-Pigg, Maritta M; Iwarsson, Erik E; Jemt, Anders A; Laaksonen, Mikael M; Enoksson, Sara Lind SL; Malmgren, Helena H; Naess, Karin K; Nordenskjöld, Magnus M; Oscarson, Mikael M; Pettersson, Maria M; Rasi, Chiara C; Rosenbaum, Adam A; Sahlin, Ellika E; Sardh, Eliane E; Stödberg, Tommy T; Tesi, Bianca B; Tham, Emma E; Thonberg, Håkan H; Töhönen, Virpi V; von Döbeln, Ulrika U; Vassiliou, Daphne D; Vonlanthen, Sofie S; Wikström, Ann-Charlotte AC; Wincent, Josephine J; Winqvist, Ola O; Wredenberg, Anna A; Ygberg, Sofia S; Zetterström, Rolf H RH; Marits, Per P; Soller, Maria Johansson MJ; Nordgren, Ann A; Wirta, Valtteri V; Lindstrand, Anna A; Wedell, Anna A
Long term disease burden post-transplantation: three decades of observations in 25 Hurler patients successfully treated with hematopoietic stem cell transplantation (HSCT).
Orphanet Journal Of Rare Diseases
Guffon, N N; Pettazzoni, M M; Pangaud, N N; Garin, C C; Lina-Granade, G G; Plault, C C; Mottolese, C C; Froissart, R R; Fouilhoux, A A
Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.
Molecular Psychiatry
Jia, Xiaoming X; Goes, Fernando S FS; Locke, Adam E AE; Palmer, Duncan D; Wang, Weiqing W; Cohen-Woods, Sarah S; Genovese, Giulio G; Jackson, Anne U AU; Jiang, Chen C; Kvale, Mark M; Mullins, Niamh N; Nguyen, Hoang H; Pirooznia, Mehdi M; Rivera, Margarita M; Ruderfer, Douglas M DM; Shen, Ling L; Thai, Khanh K; Zawistowski, Matthew M; Zhuang, Yongwen Y; Abecasis, Gonçalo G; Akil, Huda H; Bergen, Sarah S; Burmeister, Margit M; Chapman, Sinéad S; DelaBastide, Melissa M; Juréus, Anders A; Kang, Hyun Min HM; Kwok, Pui-Yan PY; Li, Jun Z JZ; Levy, Shawn E SE; Monson, Eric T ET; Moran, Jennifer J; Sobell, Janet J; Watson, Stanley S; Willour, Virginia V; Zöllner, Sebastian S; Adolfsson, Rolf R; Blackwood, Douglas D; Boehnke, Michael M; Breen, Gerome G; Corvin, Aiden A; Craddock, Nick N; DiFlorio, Arianna A; Hultman, Christina M CM; Landen, Mikael M; Lewis, Cathryn C; McCarroll, Steven A SA; Richard McCombie, W W; McGuffin, Peter P; McIntosh, Andrew A; McQuillin, Andrew A; Morris, Derek D; Myers, Richard M RM; O'Donovan, Michael M; Ophoff, Roel R; Boks, Marco M; Kahn, Rene R; Ouwehand, Willem W; Owen, Michael M; Pato, Carlos C; Pato, Michele M; Posthuma, Danielle D; Potash, James B JB; Reif, Andreas A; Sklar, Pamela P; Smoller, Jordan J; Sullivan, Patrick F PF; Vincent, John J; Walters, James J; Neale, Benjamin B; Purcell, Shaun S; Risch, Neil N; Schaefer, Catherine C; Stahl, Eli A EA; Zandi, Peter P PP; Scott, Laura J LJ
Re-analysis of whole-exome sequencing data uncovers novel diagnostic variants and improves molecular diagnostic yields for sudden death and idiopathic diseases.
Genome Medicine
Salfati, Elias L EL; Spencer, Emily G EG; Topol, Sarah E SE; Muse, Evan D ED; Rueda, Manuel M; Lucas, Jonathan R JR; Wagner, Glenn N GN; Campman, Steven S; Topol, Eric J EJ; Torkamani, Ali A
Publication Date: 2019-12-17
Variant appearance in text: IDUA: 208C>T; Gln70*; rs121965020
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: IDUA: 208C>T; Gln70*; rs121965020
Genotype-phenotype relationships in mucopolysaccharidosis type I (MPS I): Insights from the International MPS I Registry.
Clinical Genetics
Clarke, Lorne A LA; Giugliani, Roberto R; Guffon, Nathalie N; Jones, Simon A SA; Keenan, Hillary A HA; Munoz-Rojas, Maria V MV; Okuyama, Torayuki T; Viskochil, David D; Whitley, Chester B CB; Wijburg, Frits A FA; Muenzer, Joseph J
Segmental and total uniparental isodisomy (UPiD) as a disease mechanism in autosomal recessive lysosomal disorders: evidence from SNP arrays.
European Journal Of Human Genetics : Ejhg
Labrijn-Marks, Ineke I; Somers-Bolman, Galhana M GM; In 't Groen, Stijn L M SLM; Hoogeveen-Westerveld, Marianne M; Kroos, Marian A MA; Ala-Mello, Sirpa S; Amaral, Olga O; Miranda, Clara Sa CS; Mavridou, Irene I; Michelakakis, Helen H; Naess, Karin K; Verheijen, Frans W FW; Hoefsloot, Lies H LH; Dijkhuizen, Trijnie T; Benjamins, Marloes M; van den Hout, Hannerieke J M HJM; van der Ploeg, Ans T AT; Pijnappel, W W M Pim WWMP; Saris, Jasper J JJ; Halley, Dicky J DJ
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: IDUA: Q70X; rs121965020
ZFN-Mediated In Vivo Genome Editing Corrects Murine Hurler Syndrome.
Molecular Therapy : The Journal Of The American Society Of Gene Therapy
Ou, Li L; DeKelver, Russell C RC; Rohde, Michelle M; Tom, Susan S; Radeke, Robert R; St Martin, Susan J SJ; Santiago, Yolanda Y; Sproul, Scott S; Przybilla, Michelle J MJ; Koniar, Brenda L BL; Podetz-Pedersen, Kelly M KM; Laoharawee, Kanut K; Cooksley, Renee D RD; Meyer, Kathleen E KE; Holmes, Michael C MC; McIvor, R Scott RS; Wechsler, Thomas T; Whitley, Chester B CB
Craniosynostosis affects the majority of mucopolysaccharidosis patients and can contribute to increased intracranial pressure.
Journal Of Inherited Metabolic Disease
Oussoren, Esmee E; Mathijssen, Irene M J IMJ; Wagenmakers, Margreet M; Verdijk, Rob M RM; Bredero-Boelhouwer, Hansje H HH; van Veelen-Vincent, Marie-Lise C MC; van der Meijden, Jan C JC; van den Hout, Johanna M P JMP; Ruijter, George J G GJG; van der Ploeg, Ans T AT; Langeveld, Mirjam M
Neurocognitive and somatic stabilization in pediatric patients with severe Mucopolysaccharidosis Type I after 52 weeks of intravenous brain-penetrating insulin receptor antibody-iduronidase fusion protein (valanafusp alpha): an open label phase 1-2 trial.
Orphanet Journal Of Rare Diseases
Giugliani, Roberto R; Giugliani, Luciana L; de Oliveira Poswar, Fabiano F; Donis, Karina Carvalho KC; Corte, Amauri Dalla AD; Schmidt, Mathias M; Boado, Ruben J RJ; Nestrasil, Igor I; Nguyen, Carol C; Chen, Steven S; Pardridge, William M WM
Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Sheppard, Sarah S; Biswas, Sawona S; Li, Mindy H MH; Jayaraman, Vijayakumar V; Slack, Ian I; Romasko, Edward J EJ; Sasson, Ariella A; Brunton, Joshua J; Rajagopalan, Ramakrishnan R; Sarmady, Mahdi M; Abrudan, Jenica L JL; Jairam, Sowmya S; DeChene, Elizabeth T ET; Ying, Xiahoan X; Choi, Jiwon J; Wilkens, Alisha A; Raible, Sarah E SE; Scarano, Maria I MI; Santani, Avni A; Pennington, Jeffrey W JW; Luo, Minjie M; Conlin, Laura K LK; Devkota, Batsal B; Dulik, Matthew C MC; Spinner, Nancy B NB; Krantz, Ian D ID
Publication Date: 2018-12
Variant appearance in text: IDUA: 208C>T; Gln70Ter
Neonatal Onset Interstitial Lung Disease as a Primary Presenting Manifestation of Mucopolysaccharidosis Type I.
Jimd Reports
Bush, Douglas D; Sremba, Leighann L; Lomax, Kate K; Lipsett, Jill J; Ketteridge, David D; Bratkovic, Drago D; Enchautegui-Colon, Yazmin Y; Weisfeld-Adams, James J; Galambos, Csaba C; Lummus, Seth S; Wartchow, Eric E; Weinman, Jason J; Liptzin, Deborah R DR; Baker, Peter P
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: IDUA: 208C>T; Gln70Ter; rs121965020