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Ritscher-Schinzel syndrome can be characterized as an endosomal recyclinopathy.

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Title: Ritscher-Schinzel syndrome can be characterized as an endosomal recyclinopathy.
Authors: Kato K; School of Biochemistry, Faculty of Life Sciences, University of Bristol, Bristol BS8 1TD, UK.; Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences and Medical School, Nagoya, 467-8601, Japan., Nishio Y; Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences and Medical School, Nagoya, 467-8601, Japan.; Department of Pediatrics, Nagoya University Graduate School of Medicine, Nagoya, 466-8550, Japan.; Department of Genetics, Research Institute of Environmental Medicine, Nagoya University, Nagoya, 464-0805, Japan.; Medical Genomics Center, Nagoya University Hospital, Nagoya, 466-8550, Japan., McMillan KJ; School of Biochemistry, Faculty of Life Sciences, University of Bristol, Bristol BS8 1TD, UK.; Department of Biochemistry, Cell and Systems Biology, ISMIB, University of Liverpool, Liverpool L69 3BX, UK., Al-Maraghi A; Department of Human Genetics, Sidra Medicine, 26999, Doha, Qatar., Kroes HY; Department of Genetics, University Medical Center Utrecht, 3584 CX Utrecht, Netherlands., Abdel-Hamid MS; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, 12622, Egypt., Jones E; School of Biochemistry, Faculty of Life Sciences, University of Bristol, Bristol BS8 1TD, UK., Shaw S; School of Biochemistry, Faculty of Life Sciences, University of Bristol, Bristol BS8 1TD, UK., Yoshida A; Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences and Medical School, Nagoya, 467-8601, Japan., Otsuji S; Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences and Medical School, Nagoya, 467-8601, Japan.; Department of Pediatric Internal Medicine and Clinical Genetics, Aichi Developmental Disability Center Central Hospital, Kasugai, 480-0392, Japan., Murofushi Y; Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences and Medical School, Nagoya, 467-8601, Japan., Aamer W; Department of Human Genetics, Sidra Medicine, 26999, Doha, Qatar., Bhat AA; Precision Genomics and Translational Omics Lab, Metabolic and Mendelian Disorders Translational Research Program, Sidra Medicine, Doha, 26999, Qatar., AlRayahi J; Department of Pediatric Radiology, Sidra Medicine, Doha, 26999, Qatar., Al-Shabeeb Akil AS; Precision Genomics and Translational Omics Lab, Metabolic and Mendelian Disorders Translational Research Program, Sidra Medicine, Doha, 26999, Qatar., Aliyev E; Department of Human Genetics, Sidra Medicine, 26999, Doha, Qatar., van Binsbergen E; Department of Genetics, University Medical Center Utrecht, 3584 CX Utrecht, Netherlands., Janssen EJ; Department of Pediatrics, University Medical Centre Maastricht, MosaKids Children's Hospital, Maastricht, 6229 HX, Netherlands., Mehrin KM; Department of Comparative and Experimental Medicine, Nagoya City University Graduate School of Medical Sciences and Medical School, Nagoya, 467-8602, Japan., Oishi H; Department of Comparative and Experimental Medicine, Nagoya City University Graduate School of Medical Sciences and Medical School, Nagoya, 467-8602, Japan., Kobayashi R; Department of Veterinary Medicine, School of Veterinary Medicine, Rakuno Gakuen University, Ebetsu, 069-0836, Japan.; Laboratory of Genome Science, Biosignal Genome Resource Center, Institute for Molecular and Cellular Regulation, Gunma University, Gunma, 371-8511, Japan., Horii T; Laboratory of Genome Science, Biosignal Genome Resource Center, Institute for Molecular and Cellular Regulation, Gunma University, Gunma, 371-8511, Japan., Hatada I; Laboratory of Genome Science, Biosignal Genome Resource Center, Institute for Molecular and Cellular Regulation, Gunma University, Gunma, 371-8511, Japan.; Viral Vector Core, Gunma University Initiative for Advanced Research (GIAR), Gunma, 371-8512, Japan., Saito A; Department of Applied Molecular Medicine, Kidney Research Center, Niigata University Graduate School of Medical and Dental Sciences, Niigata, 951-8510, Japan.; Division of Clinical Nephrology and Rheumatology, Kidney Research Center, Niigata University Graduate School of Medical and Dental Sciences, Niigata City, Niigata, 951-8510, Japan., Hattori M; Department of Biomedical Science, Graduate School of Pharmaceutical Sciences, Nagoya City University, Nagoya, 467-8603, Japan., Kawano Y; Department of Pediatrics, Toyota Memorial Hospital, Toyota, 471-8513, Japan., Lewis PA; Bristol Proteomic Facility, School of Biochemistry, University of Bristol, Bristol BS8 1TD, UK., Heesom KJ; Bristol Proteomic Facility, School of Biochemistry, University of Bristol, Bristol BS8 1TD, UK., Takarada T; Department of Regenerative Science, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama, 700-8558, Japan., Sawamoto K; Department of Developmental and Regenerative Neurobiology, Institute of Brain Science, Nagoya City University Graduate School of Medical Sciences, Nagoya, 467-8602, Japan., Matsushita M; Department of Orthopaedic Surgery, Nagoya University Graduate School of Medicine, Nagoya, 466-8550, Japan., Ogi T; Department of Genetics, Research Institute of Environmental Medicine, Nagoya University, Nagoya, 464-0805, Japan., Butkovic R; School of Biochemistry, Faculty of Life Sciences, University of Bristol, Bristol BS8 1TD, UK., Danson C; School of Biochemistry, Faculty of Life Sciences, University of Bristol, Bristol BS8 1TD, UK., Wilkinson KA; School of Physiology, Pharmacology and Neuroscience, University of Bristol, Bristol BS8 1TD, UK., Fakhro KA; Department of Human Genetics, Sidra Medicine, 26999, Doha, Qatar.; Department of Genomic Medicine, Weill Cornell Medical College, Doha, 24144, Qatar.; College of Health and Life Sciences, Hamad Bin Khalifa University, Doha, 34110, Qatar., Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, 12622, Egypt., Saitoh S; Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences and Medical School, Nagoya, 467-8601, Japan., Cullen PJ; School of Biochemistry, Faculty of Life Sciences, University of Bristol, Bristol BS8 1TD, UK.
Source: Science translational medicine [Sci Transl Med] 2025 Jul 02; Vol. 17 (805), pp. eadt2426. Date of Electronic Publication: 2025 Jul 02.
Publication Type: Journal Article
Journal Info: Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 101505086 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1946-6242 (Electronic) Linking ISSN: 19466234 NLM ISO Abbreviation: Sci Transl Med Subsets: MEDLINE
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  Data: Ritscher-Schinzel syndrome can be characterized as an endosomal recyclinopathy.
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Department of Biochemistry, Cell and Systems Biology, ISMIB, University of Liverpool, Liverpool L69 3BX, UK.<br /><searchLink fieldCode="AU" term="%22Al-Maraghi+A%22">Al-Maraghi A</searchLink>; Department of Human Genetics, Sidra Medicine, 26999, Doha, Qatar.<br /><searchLink fieldCode="AU" term="%22Kroes+HY%22">Kroes HY</searchLink>; Department of Genetics, University Medical Center Utrecht, 3584 CX Utrecht, Netherlands.<br /><searchLink fieldCode="AU" term="%22Abdel-Hamid+MS%22">Abdel-Hamid MS</searchLink>; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, 12622, Egypt.<br /><searchLink fieldCode="AU" term="%22Jones+E%22">Jones E</searchLink>; School of Biochemistry, Faculty of Life Sciences, University of Bristol, Bristol BS8 1TD, UK.<br /><searchLink fieldCode="AU" term="%22Shaw+S%22">Shaw S</searchLink>; School of Biochemistry, Faculty of Life Sciences, University of Bristol, Bristol BS8 1TD, UK.<br /><searchLink fieldCode="AU" term="%22Yoshida+A%22">Yoshida A</searchLink>; Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences and Medical School, Nagoya, 467-8601, Japan.<br /><searchLink fieldCode="AU" term="%22Otsuji+S%22">Otsuji S</searchLink>; Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences and Medical School, Nagoya, 467-8601, Japan.; Department of Pediatric Internal Medicine and Clinical Genetics, Aichi Developmental Disability Center Central Hospital, Kasugai, 480-0392, Japan.<br /><searchLink fieldCode="AU" term="%22Murofushi+Y%22">Murofushi Y</searchLink>; Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences and Medical School, Nagoya, 467-8601, Japan.<br /><searchLink fieldCode="AU" term="%22Aamer+W%22">Aamer W</searchLink>; Department of Human Genetics, Sidra Medicine, 26999, Doha, Qatar.<br /><searchLink fieldCode="AU" term="%22Bhat+AA%22">Bhat AA</searchLink>; Precision Genomics and Translational Omics Lab, Metabolic and Mendelian Disorders Translational Research Program, Sidra Medicine, Doha, 26999, Qatar.<br /><searchLink fieldCode="AU" term="%22AlRayahi+J%22">AlRayahi J</searchLink>; Department of Pediatric Radiology, Sidra Medicine, Doha, 26999, Qatar.<br /><searchLink fieldCode="AU" term="%22Al-Shabeeb+Akil+AS%22">Al-Shabeeb Akil AS</searchLink>; Precision Genomics and Translational Omics Lab, Metabolic and Mendelian Disorders Translational Research Program, Sidra Medicine, Doha, 26999, Qatar.<br /><searchLink fieldCode="AU" term="%22Aliyev+E%22">Aliyev E</searchLink>; Department of Human Genetics, Sidra Medicine, 26999, Doha, Qatar.<br /><searchLink fieldCode="AU" term="%22van+Binsbergen+E%22">van Binsbergen E</searchLink>; Department of Genetics, University Medical Center Utrecht, 3584 CX Utrecht, Netherlands.<br /><searchLink fieldCode="AU" term="%22Janssen+EJ%22">Janssen EJ</searchLink>; Department of Pediatrics, University Medical Centre Maastricht, MosaKids Children's Hospital, Maastricht, 6229 HX, Netherlands.<br /><searchLink fieldCode="AU" term="%22Mehrin+KM%22">Mehrin KM</searchLink>; Department of Comparative and Experimental Medicine, Nagoya City University Graduate School of Medical Sciences and Medical School, Nagoya, 467-8602, Japan.<br /><searchLink fieldCode="AU" term="%22Oishi+H%22">Oishi H</searchLink>; 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