Biallelic SLC13A1 loss-of-function variants result in impaired sulfate transport and skeletal phenotypes, including short stature, scoliosis, and skeletal dysplasia.
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| Title: | Biallelic SLC13A1 loss-of-function variants result in impaired sulfate transport and skeletal phenotypes, including short stature, scoliosis, and skeletal dysplasia. |
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| Authors: | Tise CG; Division of Medical Genetics, Department of Pediatrics, Lucile Packard Children's Hospital and Stanford University, Stanford, CA., Ashton K; New South Wales Health Pathology, Randwick Genomics, Prince of Wales Hospital, New South Wales, Australia., de Hayr L; School of Health, University of the Sunshine Coast, Maroochydore, Queensland, Australia.; National PTSD Research Centre, Thompson Institute, University of the Sunshine Coast, Birtinya, QLD, Australia., Lee KD; Mater Research Institute, University of Queensland, Brisbane, QLD, Australia., Patkar OL; Mater Research Institute, University of Queensland, Brisbane, QLD, Australia., Krzesinski E; Monash Genetics, Monash Medical Centre, Melbourne, VIC, Australia.; Department of Paediatrics, Monash University, Clayton, VIC, Australia., Bassetti JA; Division of Medical Genetics, Department of Pediatrics, Weill Cornell Medicine, New York, NY., Carter EM; Hospital for Special Surgery, New York, NY., Raggio C; Hospital for Special Surgery, New York, NY., Zankl A; Department of Clinical Genetics, The Children's Hospital at Westmead, Westmead, New South Wales, Australia.; Faculty of Medicine and Health, The University of Sydney, Camperdown, New South Wales, Australia.; Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia., Khanshour AM; Center for Translational Research, Scottish Rite for Children, Dallas, TX.; Department of Pathology, University of Texas Southwestern Medical Center, Dallas, TX., Atala KN; Center for Translational Research, Scottish Rite for Children, Dallas, TX., Rios JJ; Center for Translational Research, Scottish Rite for Children, Dallas, TX.; McDermott Center for Human Growth and Development and the Departments of Orthopaedic Surgery and Pediatrics, University of Texas Southwestern Medical Center, Dallas, TX., Wise CA; Center for Translational Research, Scottish Rite for Children, Dallas, TX.; McDermott Center for Human Growth and Development and the Departments of Orthopaedic Surgery and Pediatrics, University of Texas Southwestern Medical Center, Dallas, TX., Zhu Y; New South Wales Health Pathology, Randwick Genomics, Prince of Wales Hospital, New South Wales, Australia., Zhang F; New South Wales Health Pathology, Randwick Genomics, Prince of Wales Hospital, New South Wales, Australia., Roscioli T; New South Wales Health Pathology, Randwick Genomics, Prince of Wales Hospital, New South Wales, Australia.; Neuroscience Research Australia (NeuRA), Prince of Wales Clinical School, University of New South Wales, Sydney, Australia., Buckley M; New South Wales Health Pathology, Randwick Genomics, Prince of Wales Hospital, New South Wales, Australia., Harvey RJ; School of Health, University of the Sunshine Coast, Maroochydore, Queensland, Australia.; National PTSD Research Centre, Thompson Institute, University of the Sunshine Coast, Birtinya, QLD, Australia., Dawson PA; Mater Research Institute, University of Queensland, Brisbane, QLD, Australia. |
| Source: | Genetics in medicine open [Genet Med Open] 2024 Dec 26; Vol. 3, pp. 101958. Date of Electronic Publication: 2024 Dec 26 (Print Publication: 2025). |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: Elsevier Inc Country of Publication: United States NLM ID: 9918734281906676 Publication Model: eCollection Cited Medium: Internet ISSN: 2949-7744 (Electronic) Linking ISSN: 29497744 NLM ISO Abbreviation: Genet Med Open Subsets: PubMed not MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 39925707 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Biallelic SLC13A1 loss-of-function variants result in impaired sulfate transport and skeletal phenotypes, including short stature, scoliosis, and skeletal dysplasia. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Tise+CG%22">Tise CG</searchLink>; Division of Medical Genetics, Department of Pediatrics, Lucile Packard Children's Hospital and Stanford University, Stanford, CA.<br /><searchLink fieldCode="AU" term="%22Ashton+K%22">Ashton K</searchLink>; New South Wales Health Pathology, Randwick Genomics, Prince of Wales Hospital, New South Wales, Australia.<br /><searchLink fieldCode="AU" term="%22de+Hayr+L%22">de Hayr L</searchLink>; School of Health, University of the Sunshine Coast, Maroochydore, Queensland, Australia.; National PTSD Research Centre, Thompson Institute, University of the Sunshine Coast, Birtinya, QLD, Australia.<br /><searchLink fieldCode="AU" term="%22Lee+KD%22">Lee KD</searchLink>; Mater Research Institute, University of Queensland, Brisbane, QLD, Australia.<br /><searchLink fieldCode="AU" term="%22Patkar+OL%22">Patkar OL</searchLink>; Mater Research Institute, University of Queensland, Brisbane, QLD, Australia.<br /><searchLink fieldCode="AU" term="%22Krzesinski+E%22">Krzesinski E</searchLink>; Monash Genetics, Monash Medical Centre, Melbourne, VIC, Australia.; Department of Paediatrics, Monash University, Clayton, VIC, Australia.<br /><searchLink fieldCode="AU" term="%22Bassetti+JA%22">Bassetti JA</searchLink>; Division of Medical Genetics, Department of Pediatrics, Weill Cornell Medicine, New York, NY.<br /><searchLink fieldCode="AU" term="%22Carter+EM%22">Carter EM</searchLink>; Hospital for Special Surgery, New York, NY.<br /><searchLink fieldCode="AU" term="%22Raggio+C%22">Raggio C</searchLink>; Hospital for Special Surgery, New York, NY.<br /><searchLink fieldCode="AU" term="%22Zankl+A%22">Zankl A</searchLink>; Department of Clinical Genetics, The Children's Hospital at Westmead, Westmead, New South Wales, Australia.; Faculty of Medicine and Health, The University of Sydney, Camperdown, New South Wales, Australia.; Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia.<br /><searchLink fieldCode="AU" term="%22Khanshour+AM%22">Khanshour AM</searchLink>; Center for Translational Research, Scottish Rite for Children, Dallas, TX.; Department of Pathology, University of Texas Southwestern Medical Center, Dallas, TX.<br /><searchLink fieldCode="AU" term="%22Atala+KN%22">Atala KN</searchLink>; Center for Translational Research, Scottish Rite for Children, Dallas, TX.<br /><searchLink fieldCode="AU" term="%22Rios+JJ%22">Rios JJ</searchLink>; Center for Translational Research, Scottish Rite for Children, Dallas, TX.; McDermott Center for Human Growth and Development and the Departments of Orthopaedic Surgery and Pediatrics, University of Texas Southwestern Medical Center, Dallas, TX.<br /><searchLink fieldCode="AU" term="%22Wise+CA%22">Wise CA</searchLink>; Center for Translational Research, Scottish Rite for Children, Dallas, TX.; McDermott Center for Human Growth and Development and the Departments of Orthopaedic Surgery and Pediatrics, University of Texas Southwestern Medical Center, Dallas, TX.<br /><searchLink fieldCode="AU" term="%22Zhu+Y%22">Zhu Y</searchLink>; New South Wales Health Pathology, Randwick Genomics, Prince of Wales Hospital, New South Wales, Australia.<br /><searchLink fieldCode="AU" term="%22Zhang+F%22">Zhang F</searchLink>; New South Wales Health Pathology, Randwick Genomics, Prince of Wales Hospital, New South Wales, Australia.<br /><searchLink fieldCode="AU" term="%22Roscioli+T%22">Roscioli T</searchLink>; New South Wales Health Pathology, Randwick Genomics, Prince of Wales Hospital, New South Wales, Australia.; Neuroscience Research Australia (NeuRA), Prince of Wales Clinical School, University of New South Wales, Sydney, Australia.<br /><searchLink fieldCode="AU" term="%22Buckley+M%22">Buckley M</searchLink>; New South Wales Health Pathology, Randwick Genomics, Prince of Wales Hospital, New South Wales, Australia.<br /><searchLink fieldCode="AU" term="%22Harvey+RJ%22">Harvey RJ</searchLink>; School of Health, University of the Sunshine Coast, Maroochydore, Queensland, Australia.; National PTSD Research Centre, Thompson Institute, University of the Sunshine Coast, Birtinya, QLD, Australia.<br /><searchLink fieldCode="AU" term="%22Dawson+PA%22">Dawson PA</searchLink>; Mater Research Institute, University of Queensland, Brisbane, QLD, Australia. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%229918734281906676%22">Genetics in medicine open</searchLink> [Genet Med Open] 2024 Dec 26; Vol. 3, pp. 101958. <i>Date of Electronic Publication: </i>2024 Dec 26 (<i>Print Publication: </i>2025). – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Elsevier+Inc%22">Elsevier Inc </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>9918734281906676 <i>Publication Model: </i>eCollection <i>Cited Medium: </i>Internet <i>ISSN: </i>2949-7744 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2229497744%22">29497744 </searchLink><i>NLM ISO Abbreviation: </i>Genet Med Open <i>Subsets: </i>PubMed not MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=39925707 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1016/j.gimo.2024.101958 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 101958 Titles: – TitleFull: Biallelic SLC13A1 loss-of-function variants result in impaired sulfate transport and skeletal phenotypes, including short stature, scoliosis, and skeletal dysplasia. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Tise CG – PersonEntity: Name: NameFull: Ashton K – PersonEntity: Name: NameFull: de Hayr L – PersonEntity: Name: NameFull: Lee KD – PersonEntity: Name: NameFull: Patkar OL – PersonEntity: Name: NameFull: Krzesinski E – PersonEntity: Name: NameFull: Bassetti JA – PersonEntity: Name: NameFull: Carter EM – PersonEntity: Name: NameFull: Raggio C – PersonEntity: Name: NameFull: Zankl A – PersonEntity: Name: NameFull: Khanshour AM – PersonEntity: Name: NameFull: Atala KN – PersonEntity: Name: NameFull: Rios JJ – PersonEntity: Name: NameFull: Wise CA – PersonEntity: Name: NameFull: Zhu Y – PersonEntity: Name: NameFull: Zhang F – PersonEntity: Name: NameFull: Roscioli T – PersonEntity: Name: NameFull: Buckley M – PersonEntity: Name: NameFull: Harvey RJ – PersonEntity: Name: NameFull: Dawson PA IsPartOfRelationships: – BibEntity: Dates: – D: 26 M: 12 Text: 2024 Dec 26 Type: published Y: 2024 Identifiers: – Type: issn-electronic Value: 2949-7744 Numbering: – Type: volume Value: 3 Titles: – TitleFull: Genetics in medicine open Type: main |
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