Biallelic <italic>TMEM72</italic> Variants in Patients with a Nephronophthisis-Like Phenotype.
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| Title: | Biallelic <italic>TMEM72</italic> Variants in Patients with a Nephronophthisis-Like Phenotype. |
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| Authors: | Claus LR; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands., Snoek R; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands., Faber S; Department of Human Genetics, Radboud UMC, Nijmegen, The Netherlands., Roskothen-Shevchuk AJC; Department of Nephrology and Hypertension, University Medical Center Utrecht, Utrecht, The Netherlands., Sendino Garví E; Division of Pharmacology, Utrecht Institute for Pharmaceutical Sciences, Utrecht University, Utrecht, The Netherlands., Peters EDJ; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands., Savelberg SMC; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands., Duran K; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands., van der Zwaag B; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands., Nguyen TQ; Department of Pathology, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands., Broekhuizen R; Department of Pathology, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands., Brummelhuis WJ; Department of Rheumatology and Clinical Immunology, University Medical Center Utrecht, Utrecht, The Netherlands., Rookmaaker M; Department of Nephrology and Hypertension, University Medical Center Utrecht, Utrecht, The Netherlands., van der Veen SW; Department of Genetics, Center for Molecular Medicine, Utrecht University, Utrecht, The Netherlands., Elferink MG; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands., Karras A; Department of Nephrology, Assistance Publique-Hôpitaux de Paris (APHP), Hôpital Européen Georges Pompidou, Université de Paris, Paris, France., Raymond L; Soins Intensifs Néphrologiques et Rein Aigu, Department of Nephrology, Sorbonne Université and Assistance Publique-Hôpitaux de Paris (APHP), Paris, France., Mousseaux C; Soins Intensifs Néphrologiques et Rein Aigu, Department of Nephrology, Sorbonne Université and Assistance Publique-Hôpitaux de Paris (APHP), Paris, France., Sadeghi-Alavijeh O; Centre for Genetics and Genomics, Department of Renal Medicine, University College London, London, UK., Sayer JA; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; Renal Services, Newcastle Upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.; NIHR Newcastle Biomedical Research Centre, Newcastle upon Tyne, UK., Olinger E; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK., Neatu R; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK., Klämbt V; Division of Pediatric Nephrology, Boston Children's Hospital, Boston, Massachusetts, USA., Stokman MF; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.; Department of Human Genetics, Radboud UMC, Nijmegen, The Netherlands., Knoers NVAM; Department of Genetics, University Medical Center Groningen, Groningen, The Netherlands., Tessadori F; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.; Hubrecht Institute, KNAW and University Medical Center Utrecht, Utrecht, The Netherlands., Gale DP; Centre for Genetics and Genomics, Department of Renal Medicine, University College London, London, UK., Boldt K; Institute of Ophthalmic Research, Center for Ophthalmology, University of Tübingen, Tübingen, Germany.; Core Facility for Medical Proteomics, University of Tübingen, Tübingen, Germany., Ueffing M; Institute of Ophthalmic Research, Center for Ophthalmology, University of Tübingen, Tübingen, Germany., Slaats GG; Department of Nephrology and Hypertension, University Medical Center Utrecht, Utrecht, The Netherlands., Roepman R; Department of Human Genetics, Radboud UMC, Nijmegen, The Netherlands., Hildebrandt F; NIHR Newcastle Biomedical Research Centre, Newcastle upon Tyne, UK., Mesnard L; Soins Intensifs Néphrologiques et Rein Aigu, Department of Nephrology, Sorbonne Université and Assistance Publique-Hôpitaux de Paris (APHP), Paris, France., van Haaften G; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands., van Eerde AM; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands, a.vanEerde@umcutrecht.nl. |
| Source: | Nephron [Nephron] 2026; Vol. 150 (4), pp. 210-227. Date of Electronic Publication: 2025 Nov 27. |
| Publication Type: | Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural |
| Journal Info: | Publisher: Karger Country of Publication: Switzerland NLM ID: 0331777 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2235-3186 (Electronic) Linking ISSN: 16608151 NLM ISO Abbreviation: Nephron Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 41308066 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Biallelic &lt;italic>TMEM72&lt;/italic> Variants in Patients with a Nephronophthisis-Like Phenotype. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Claus+LR%22">Claus LR</searchLink>; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Snoek+R%22">Snoek R</searchLink>; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Faber+S%22">Faber S</searchLink>; Department of Human Genetics, Radboud UMC, Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Roskothen-Shevchuk+AJC%22">Roskothen-Shevchuk AJC</searchLink>; Department of Nephrology and Hypertension, University Medical Center Utrecht, Utrecht, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Sendino+Garví+E%22">Sendino Garví E</searchLink>; Division of Pharmacology, Utrecht Institute for Pharmaceutical Sciences, Utrecht University, Utrecht, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Peters+EDJ%22">Peters EDJ</searchLink>; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Savelberg+SMC%22">Savelberg SMC</searchLink>; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Duran+K%22">Duran K</searchLink>; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.<br /><searchLink fieldCode="AU" term="%22van+der+Zwaag+B%22">van der Zwaag B</searchLink>; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Nguyen+TQ%22">Nguyen TQ</searchLink>; Department of Pathology, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Broekhuizen+R%22">Broekhuizen R</searchLink>; Department of Pathology, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Brummelhuis+WJ%22">Brummelhuis WJ</searchLink>; Department of Rheumatology and Clinical Immunology, University Medical Center Utrecht, Utrecht, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Rookmaaker+M%22">Rookmaaker M</searchLink>; Department of Nephrology and Hypertension, University Medical Center Utrecht, Utrecht, The Netherlands.<br /><searchLink fieldCode="AU" term="%22van+der+Veen+SW%22">van der Veen SW</searchLink>; Department of Genetics, Center for Molecular Medicine, Utrecht University, Utrecht, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Elferink+MG%22">Elferink MG</searchLink>; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Karras+A%22">Karras A</searchLink>; Department of Nephrology, Assistance Publique-Hôpitaux de Paris (APHP), Hôpital Européen Georges Pompidou, Université de Paris, Paris, France.<br /><searchLink fieldCode="AU" term="%22Raymond+L%22">Raymond L</searchLink>; Soins Intensifs Néphrologiques et Rein Aigu, Department of Nephrology, Sorbonne Université and Assistance Publique-Hôpitaux de Paris (APHP), Paris, France.<br /><searchLink fieldCode="AU" term="%22Mousseaux+C%22">Mousseaux C</searchLink>; Soins Intensifs Néphrologiques et Rein Aigu, Department of Nephrology, Sorbonne Université and Assistance Publique-Hôpitaux de Paris (APHP), Paris, France.<br /><searchLink fieldCode="AU" term="%22Sadeghi-Alavijeh+O%22">Sadeghi-Alavijeh O</searchLink>; Centre for Genetics and Genomics, Department of Renal Medicine, University College London, London, UK.<br /><searchLink fieldCode="AU" term="%22Sayer+JA%22">Sayer JA</searchLink>; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; Renal Services, Newcastle Upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.; NIHR Newcastle Biomedical Research Centre, Newcastle upon Tyne, UK.<br /><searchLink fieldCode="AU" term="%22Olinger+E%22">Olinger E</searchLink>; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.<br /><searchLink fieldCode="AU" term="%22Neatu+R%22">Neatu R</searchLink>; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.<br /><searchLink fieldCode="AU" term="%22Klämbt+V%22">Klämbt V</searchLink>; Division of Pediatric Nephrology, Boston Children's Hospital, Boston, Massachusetts, USA.<br /><searchLink fieldCode="AU" term="%22Stokman+MF%22">Stokman MF</searchLink>; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.; Department of Human Genetics, Radboud UMC, Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Knoers+NVAM%22">Knoers NVAM</searchLink>; Department of Genetics, University Medical Center Groningen, Groningen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Tessadori+F%22">Tessadori F</searchLink>; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.; Hubrecht Institute, KNAW and University Medical Center Utrecht, Utrecht, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Gale+DP%22">Gale DP</searchLink>; Centre for Genetics and Genomics, Department of Renal Medicine, University College London, London, UK.<br /><searchLink fieldCode="AU" term="%22Boldt+K%22">Boldt K</searchLink>; Institute of Ophthalmic Research, Center for Ophthalmology, University of Tübingen, Tübingen, Germany.; Core Facility for Medical Proteomics, University of Tübingen, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Ueffing+M%22">Ueffing M</searchLink>; Institute of Ophthalmic Research, Center for Ophthalmology, University of Tübingen, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Slaats+GG%22">Slaats GG</searchLink>; Department of Nephrology and Hypertension, University Medical Center Utrecht, Utrecht, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Roepman+R%22">Roepman R</searchLink>; Department of Human Genetics, Radboud UMC, Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Hildebrandt+F%22">Hildebrandt F</searchLink>; NIHR Newcastle Biomedical Research Centre, Newcastle upon Tyne, UK.<br /><searchLink fieldCode="AU" term="%22Mesnard+L%22">Mesnard L</searchLink>; Soins Intensifs Néphrologiques et Rein Aigu, Department of Nephrology, Sorbonne Université and Assistance Publique-Hôpitaux de Paris (APHP), Paris, France.<br /><searchLink fieldCode="AU" term="%22van+Haaften+G%22">van Haaften G</searchLink>; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.<br /><searchLink fieldCode="AU" term="%22van+Eerde+AM%22">van Eerde AM</searchLink>; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands, a.vanEerde@umcutrecht.nl. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%220331777%22">Nephron</searchLink> [Nephron] 2026; Vol. 150 (4), pp. 210-227. <i>Date of Electronic Publication: </i>2025 Nov 27. – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Karger%22">Karger </searchLink><i>Country of Publication: </i>Switzerland <i>NLM ID: </i>0331777 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>2235-3186 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2216608151%22">16608151 </searchLink><i>NLM ISO Abbreviation: </i>Nephron <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=41308066 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1159/000549598 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 210 Titles: – TitleFull: Biallelic <italic>TMEM72</italic> Variants in Patients with a Nephronophthisis-Like Phenotype. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Claus LR – PersonEntity: Name: NameFull: Snoek R – PersonEntity: Name: NameFull: Faber S – PersonEntity: Name: NameFull: Roskothen-Shevchuk AJC – PersonEntity: Name: NameFull: Sendino Garví E – PersonEntity: Name: NameFull: Peters EDJ – PersonEntity: Name: NameFull: Savelberg SMC – PersonEntity: Name: NameFull: Duran K – PersonEntity: Name: NameFull: van der Zwaag B – PersonEntity: Name: NameFull: Nguyen TQ – PersonEntity: Name: NameFull: Broekhuizen R – PersonEntity: Name: NameFull: Brummelhuis WJ – PersonEntity: Name: NameFull: Rookmaaker M – PersonEntity: Name: NameFull: van der Veen SW – PersonEntity: Name: NameFull: Elferink MG – PersonEntity: Name: NameFull: Karras A – PersonEntity: Name: NameFull: Raymond L – PersonEntity: Name: NameFull: Mousseaux C – PersonEntity: Name: NameFull: Sadeghi-Alavijeh O – PersonEntity: Name: NameFull: Sayer JA – PersonEntity: Name: NameFull: Olinger E – PersonEntity: Name: NameFull: Neatu R – PersonEntity: Name: NameFull: Klämbt V – PersonEntity: Name: NameFull: Stokman MF – PersonEntity: Name: NameFull: Knoers NVAM – PersonEntity: Name: NameFull: Tessadori F – PersonEntity: Name: NameFull: Gale DP – PersonEntity: Name: NameFull: Boldt K – PersonEntity: Name: NameFull: Ueffing M – PersonEntity: Name: NameFull: Slaats GG – PersonEntity: Name: NameFull: Roepman R – PersonEntity: Name: NameFull: Hildebrandt F – PersonEntity: Name: NameFull: Mesnard L – PersonEntity: Name: NameFull: van Haaften G – PersonEntity: Name: NameFull: van Eerde AM IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 01 Text: 2026 Type: published Y: 2026 Identifiers: – Type: issn-electronic Value: 2235-3186 Numbering: – Type: volume Value: 150 – Type: issue Value: 4 Titles: – TitleFull: Nephron Type: main |
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