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Wyszukujesz frazę ""wolfram syndrome"" wg kryterium: Temat


Tytuł:
Early Diagnosis of Wolfram Syndrome by Ophthalmologic Screening in a Patient with Type 1B Diabetes Mellitus: A Case Report
Autorzy:
Kokumai T; Asahikawa Medical University, Department of Pediatrics, Asahikawa, Japan
Suzuki S; Asahikawa Medical University, Department of Pediatrics, Asahikawa, Japan
Nishikawa N; Asahikawa Medical University, Department of Ophthalmology, Asahikawa, Japan
Yamamura H; Asahikawa Medical University, Department of Pediatrics, Asahikawa, Japan
Mukai T; Japanese Red Cross Asahikawa Hospital, Department of Pediatrics, Asahikawa, Japan
Tanahashi Y; Asahikawa Medical University, Department of Pediatrics, Asahikawa, Japan; Wakkanai City Hospital, Department of Pediatrics, Wakkanai, Japan
Takahashi S; Asahikawa Medical University, Department of Pediatrics, Asahikawa, Japan
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Źródło:
Journal of clinical research in pediatric endocrinology [J Clin Res Pediatr Endocrinol] 2024 Mar 11; Vol. 16 (1), pp. 102-105. Date of Electronic Publication: 2022 Aug 19.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Wolfram Syndrome*/diagnosis
Wolfram Syndrome*/genetics
Optic Atrophy*/genetics
Diabetes Mellitus, Type 1*/complications
Diabetes Mellitus, Type 1*/diagnosis
Diabetes Mellitus, Type 1*/genetics
Male ; Humans ; Child, Preschool ; Child ; Membrane Proteins/genetics ; Early Diagnosis ; Mutation
Czasopismo naukowe
Tytuł:
Wolfram syndrome type 1: a case series.
Autorzy:
Du D; Department of Endocrinology and Metabolism, People's Hospital of Xinjiang Uygur Autonomous Region, Xinjiang Clinical Research Center for Diabetes, Urumqi, 830000, China.
Tuhuti A; Department of Endocrinology and Metabolism, People's Hospital of Xinjiang Uygur Autonomous Region, Xinjiang Clinical Research Center for Diabetes, Urumqi, 830000, China.
Ma Y; Department of Endocrinology and Metabolism, People's Hospital of Xinjiang Uygur Autonomous Region, Xinjiang Clinical Research Center for Diabetes, Urumqi, 830000, China.
Abuduniyimu M; Department of Endocrinology and Metabolism, People's Hospital of Xinjiang Uygur Autonomous Region, Xinjiang Clinical Research Center for Diabetes, Urumqi, 830000, China.
Li S; Department of Endocrinology and Metabolism, People's Hospital of Xinjiang Uygur Autonomous Region, Xinjiang Clinical Research Center for Diabetes, Urumqi, 830000, China.
Ma G; Department of Endocrinology and Metabolism, People's Hospital of Xinjiang Uygur Autonomous Region, Xinjiang Clinical Research Center for Diabetes, Urumqi, 830000, China.
Zynat J; Department of Endocrinology and Metabolism, People's Hospital of Xinjiang Uygur Autonomous Region, Xinjiang Clinical Research Center for Diabetes, Urumqi, 830000, China.
Guo Y; Department of Endocrinology and Metabolism, People's Hospital of Xinjiang Uygur Autonomous Region, Xinjiang Clinical Research Center for Diabetes, Urumqi, 830000, China. .
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Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2023 Nov 16; Vol. 18 (1), pp. 359. Date of Electronic Publication: 2023 Nov 16.
Typ publikacji:
Journal Article
MeSH Terms:
Wolfram Syndrome*/diagnosis
Wolfram Syndrome*/genetics
Neurodegenerative Diseases*
Optic Atrophy*/genetics
Diabetes Mellitus, Type 2*
Humans ; Quality of Life ; Mutation/genetics
Czasopismo naukowe
Tytuł:
Next generation sequencing identifies a pathogenic mutation of WFS1 gene in a Moroccan family with Wolfram syndrome: a case report.
Autorzy:
Sahli M; Department of Medical Genetics, National Institute of Health in Rabat, BP 769 Agdal, 10 090, Rabat, Morocco. .
Zrhidri A; Department of Medical Genetics, National Institute of Health in Rabat, BP 769 Agdal, 10 090, Rabat, Morocco.; Research Team in Genomics and Molecular Epidemiology of Genetic Diseases, Faculty of Medicine and Pharmacy, Genomic Center of Human Pathologies, Mohammed V University in Rabat, Rabat, Morocco.
Boualaoui I; Department of Urology A, Ibn Sina Hospital, Mohammed V University, Rabat, Morocco.
Cherkaoui Jaouad I; Department of Medical Genetics, National Institute of Health in Rabat, BP 769 Agdal, 10 090, Rabat, Morocco.
El Kadiri Y; Department of Medical Genetics, National Institute of Health in Rabat, BP 769 Agdal, 10 090, Rabat, Morocco.; Research Team in Genomics and Molecular Epidemiology of Genetic Diseases, Faculty of Medicine and Pharmacy, Genomic Center of Human Pathologies, Mohammed V University in Rabat, Rabat, Morocco.
Nouini Y; Department of Urology A, Ibn Sina Hospital, Mohammed V University, Rabat, Morocco.
Sefiani A; Department of Medical Genetics, National Institute of Health in Rabat, BP 769 Agdal, 10 090, Rabat, Morocco.; Research Team in Genomics and Molecular Epidemiology of Genetic Diseases, Faculty of Medicine and Pharmacy, Genomic Center of Human Pathologies, Mohammed V University in Rabat, Rabat, Morocco.
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Źródło:
Journal of medical case reports [J Med Case Rep] 2023 Sep 27; Vol. 17 (1), pp. 409. Date of Electronic Publication: 2023 Sep 27.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Wolfram Syndrome*/diagnosis
Wolfram Syndrome*/genetics
Optic Atrophy*/diagnosis
Optic Atrophy*/genetics
Diabetes Mellitus, Type 1*
Child, Preschool ; Male ; Child ; Humans ; Adult ; High-Throughput Nucleotide Sequencing ; Mutation ; Atrophy
Czasopismo naukowe
Tytuł:
Genomics of Wolfram Syndrome 1 (WFS1).
Autorzy:
Kõks S; Perron Institute for Neurological and Translational Science, 8 Verdun Street, Nedlands, WA 6009, Australia.; Centre for Molecular Medicine and Innovative Therapeutics, Murdoch University, Perth, WA 6150, Australia.
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Źródło:
Biomolecules [Biomolecules] 2023 Sep 04; Vol. 13 (9). Date of Electronic Publication: 2023 Sep 04.
Typ publikacji:
Journal Article; Review
MeSH Terms:
Wolfram Syndrome*/genetics
Optic Atrophy*/genetics
Animals ; Mice ; Humans ; Quality of Life ; Mutation ; Genomics
Czasopismo naukowe
Tytuł:
Wolfram syndrome 1 regulates sleep in dopamine receptor neurons by modulating calcium homeostasis.
Autorzy:
Hao H; Key Laboratory of Molecular Biophysics of Ministry of Education, College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan, Hubei, China.
Song L; Key Laboratory of Molecular Biophysics of Ministry of Education, College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan, Hubei, China.
Zhang L; Key Laboratory of Molecular Biophysics of Ministry of Education, College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan, Hubei, China.; Hubei Province Key Laboratory of Oral and Maxillofacial Development and Regeneration, Wuhan, Hubei, China.
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Źródło:
PLoS genetics [PLoS Genet] 2023 Jul 03; Vol. 19 (7), pp. e1010827. Date of Electronic Publication: 2023 Jul 03 (Print Publication: 2023).
Typ publikacji:
Journal Article
MeSH Terms:
Wolfram Syndrome*/genetics
Humans ; Calcium/metabolism ; Receptors, Dopamine/genetics ; Dopamine/genetics ; Dopaminergic Neurons/metabolism ; Mutation ; Sleep/genetics ; Homeostasis/genetics
Czasopismo naukowe
Tytuł:
The genetic and clinical characteristics of WFS1 related diabetes in Chinese early onset type 2 diabetes.
Autorzy:
Li Y; Departments of Endocrinology and Metabolism, Peking University People's Hospital, Peking University Diabetes Center, No 11, Xizhimen South Street, Beijing, 100044, China.
Gong S; Departments of Endocrinology and Metabolism, Peking University People's Hospital, Peking University Diabetes Center, No 11, Xizhimen South Street, Beijing, 100044, China.
Li M; Departments of Endocrinology and Metabolism, Peking University People's Hospital, Peking University Diabetes Center, No 11, Xizhimen South Street, Beijing, 100044, China.
Cai X; Departments of Endocrinology and Metabolism, Peking University People's Hospital, Peking University Diabetes Center, No 11, Xizhimen South Street, Beijing, 100044, China.
Liu W; Departments of Endocrinology and Metabolism, Peking University People's Hospital, Peking University Diabetes Center, No 11, Xizhimen South Street, Beijing, 100044, China.
Zhang S; Departments of Endocrinology and Metabolism, Peking University People's Hospital, Peking University Diabetes Center, No 11, Xizhimen South Street, Beijing, 100044, China.
Ma Y; Departments of Endocrinology and Metabolism, Peking University People's Hospital, Peking University Diabetes Center, No 11, Xizhimen South Street, Beijing, 100044, China.
Luo Y; Departments of Endocrinology and Metabolism, Peking University People's Hospital, Peking University Diabetes Center, No 11, Xizhimen South Street, Beijing, 100044, China.
Zhou L; Departments of Endocrinology and Metabolism, Peking University People's Hospital, Peking University Diabetes Center, No 11, Xizhimen South Street, Beijing, 100044, China.
Zhang X; Departments of Endocrinology and Metabolism, Peking University People's Hospital, Peking University Diabetes Center, No 11, Xizhimen South Street, Beijing, 100044, China.
Huang X; Departments of Endocrinology and Metabolism, Peking University People's Hospital, Peking University Diabetes Center, No 11, Xizhimen South Street, Beijing, 100044, China.
Gao X; Departments of Endocrinology and Metabolism, Peking University People's Hospital, Peking University Diabetes Center, No 11, Xizhimen South Street, Beijing, 100044, China.
Hu M; Departments of Endocrinology and Metabolism, Peking University People's Hospital, Peking University Diabetes Center, No 11, Xizhimen South Street, Beijing, 100044, China.
Li Y; Beijing Pinggu Hospital, No·59, Xinping North Street, Beijing, 101200, China.
Ren Q; Departments of Endocrinology and Metabolism, Peking University People's Hospital, Peking University Diabetes Center, No 11, Xizhimen South Street, Beijing, 100044, China.
Wang Y; Departments of Endocrinology and Metabolism, Peking University People's Hospital, Peking University Diabetes Center, No 11, Xizhimen South Street, Beijing, 100044, China.
Zhou X; Departments of Endocrinology and Metabolism, Peking University People's Hospital, Peking University Diabetes Center, No 11, Xizhimen South Street, Beijing, 100044, China.
Han X; Departments of Endocrinology and Metabolism, Peking University People's Hospital, Peking University Diabetes Center, No 11, Xizhimen South Street, Beijing, 100044, China. .
Ji L; Departments of Endocrinology and Metabolism, Peking University People's Hospital, Peking University Diabetes Center, No 11, Xizhimen South Street, Beijing, 100044, China. .
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Źródło:
Scientific reports [Sci Rep] 2023 Jun 05; Vol. 13 (1), pp. 9127. Date of Electronic Publication: 2023 Jun 05.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Diabetes Mellitus, Type 2*/genetics
Wolfram Syndrome*/diagnosis
Wolfram Syndrome*/genetics
Wolfram Syndrome*/pathology
Humans ; East Asian People ; Genetic Testing ; Phenotype ; Adult
Czasopismo naukowe
Tytuł:
WFS1 autosomal dominant variants linked with hearing loss: update on structural analysis and cochlear implant outcome.
Autorzy:
Lim HD; Department of Otorhinolaryngology-Head and Neck Surgery, Seoul National University Hospital, Seoul, Republic of Korea.
Lee SM; Department of Otorhinolaryngology-Head and Neck Surgery, Seoul National University Hospital, Seoul, Republic of Korea.
Yun YJ; Department of Otorhinolaryngology-Head and Neck Surgery, Seoul National University Hospital, Seoul, Republic of Korea.
Lee DH; CTCELLS, Inc, 21, Yuseong-daero, 1205beon-gil, Yuseong-gu, Daejeon, Republic of Korea.
Lee JH; Department of Otorhinolaryngology-Head and Neck Surgery, Seoul National University Hospital, Seoul, Republic of Korea.
Oh SH; Department of Otorhinolaryngology-Head and Neck Surgery, Seoul National University Hospital, Seoul, Republic of Korea.
Lee SY; Department of Otorhinolaryngology-Head and Neck Surgery, Seoul National University Hospital, Seoul, Republic of Korea. .; Department of Genomic Medicine, Seoul National University Hospital, Seoul, Republic of Korea. .
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Źródło:
BMC medical genomics [BMC Med Genomics] 2023 Apr 11; Vol. 16 (1), pp. 79. Date of Electronic Publication: 2023 Apr 11.
Typ publikacji:
Systematic Review; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Wolfram Syndrome*/complications
Wolfram Syndrome*/genetics
Wolfram Syndrome*/pathology
Cochlear Implants*
Cochlear Implantation*
Hearing Loss*/genetics
Deafness*
Humans ; Pedigree
SCR Disease Name:
Deafness, Autosomal Dominant 6
Czasopismo naukowe
Tytuł:
Evaluation of the Oral Bacterial Genome and Metabolites in Patients with Wolfram Syndrome.
Autorzy:
Zmysłowska-Polakowska E; Department of Endodontics, Medical University of Lodz, 92-213 Lodz, Poland.
Płoszaj T; Department of Clinical Genetics, Medical University of Lodz, 92-213 Lodz, Poland.
Skoczylas S; Department of Clinical Genetics, Medical University of Lodz, 92-213 Lodz, Poland.
Mojsak P; Clinical Research Centre, Medical University of Bialystok, 15-276 Bialystok, Poland.
Ciborowski M; Clinical Research Centre, Medical University of Bialystok, 15-276 Bialystok, Poland.
Kretowski A; Clinical Research Centre, Medical University of Bialystok, 15-276 Bialystok, Poland.; Department of Endocrinology, Diabetology and Internal Medicine, Medical University of Bialystok, 15-276 Bialystok, Poland.
Lukomska-Szymanska M; Department of General Dentistry, Medical University of Lodz, 92-213 Lodz, Poland.
Szadkowska A; Department of Pediatrics, Diabetology, Endocrinology and Nephrology, Medical University of Lodz, 92-213 Lodz, Poland.
Mlynarski W; Department of Pediatrics, Oncology and Hematology, Medical University of Lodz, 92-213 Lodz, Poland.
Zmysłowska A; Department of Clinical Genetics, Medical University of Lodz, 92-213 Lodz, Poland.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2023 Mar 15; Vol. 24 (6). Date of Electronic Publication: 2023 Mar 15.
Typ publikacji:
Journal Article
MeSH Terms:
Wolfram Syndrome*
Diabetes Mellitus, Type 1*/complications
Humans ; RNA, Ribosomal, 16S/metabolism ; Metabolome ; Genome, Bacterial
Czasopismo naukowe
Tytuł:
Wolfram Syndrome 1: A Pediatrician's and Pediatric Endocrinologist's Perspective.
Autorzy:
Serbis A; Department of Pediatrics, School of Medicine, University of Ioannina, 451 10 Ioannina, Greece.
Rallis D; Neonatal Intensive Care Unit, School of Medicine, University of Ioannina, 451 10 Ioannina, Greece.
Giapros V; Neonatal Intensive Care Unit, School of Medicine, University of Ioannina, 451 10 Ioannina, Greece.
Galli-Tsinopoulou A; Second Department of Pediatrics, School of Medicine, Faculty of Health Sciences, AHEPA University General Hospital, Aristotle University of Thessaloniki, 541 24 Thessaloniki, Greece.
Siomou E; Department of Pediatrics, School of Medicine, University of Ioannina, 451 10 Ioannina, Greece.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2023 Feb 12; Vol. 24 (4). Date of Electronic Publication: 2023 Feb 12.
Typ publikacji:
Journal Article; Review
MeSH Terms:
Wolfram Syndrome*/genetics
Neurodegenerative Diseases*/complications
Diabetes Mellitus, Type 2*/complications
Male ; Female ; Adolescent ; Humans ; Child ; Endocrinologists ; Membrane Proteins/genetics ; Mutation ; Pediatricians
Czasopismo naukowe
Tytuł:
The Role of ER Stress in Diabetes: Exploring Pathological Mechanisms Using Wolfram Syndrome.
Autorzy:
Morikawa S; Department of Medicine, Division of Endocrinology, Metabolism, and Lipid Research, Washington University School of Medicine, St. Louis, MO 63110, USA.; Department of Pediatrics, Graduate School of Medicine, Hokkaido University, Sapporo 060-8638, Japan.
Urano F; Department of Medicine, Division of Endocrinology, Metabolism, and Lipid Research, Washington University School of Medicine, St. Louis, MO 63110, USA.; Department of Pathology and Immunology, Washington University School of Medicine, St. Louis, MO 63110, USA.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2022 Dec 23; Vol. 24 (1). Date of Electronic Publication: 2022 Dec 23.
Typ publikacji:
Journal Article; Review
MeSH Terms:
Wolfram Syndrome*/genetics
Diabetes Mellitus, Type 1*/metabolism
Diabetes Mellitus, Type 2*/metabolism
Insulin-Secreting Cells*/metabolism
Humans ; Endoplasmic Reticulum Stress/physiology ; Insulin/metabolism
Czasopismo naukowe
Tytuł:
Wolfram syndrome 1b mutation suppresses Mauthner-cell axon regeneration via ER stress signal pathway.
Autorzy:
Wang Z; Hefei National Research Center for Physical Sciences at the Microscale, Chinese Academy of Sciences Key Laboratory of Brain Function and Disease, Division of Life Sciences and Medicine, University of Science and Technology of China, Hefei, 230026, China.
Wang X; Hefei National Research Center for Physical Sciences at the Microscale, Chinese Academy of Sciences Key Laboratory of Brain Function and Disease, Division of Life Sciences and Medicine, University of Science and Technology of China, Hefei, 230026, China.
Shi L; Hefei National Research Center for Physical Sciences at the Microscale, Chinese Academy of Sciences Key Laboratory of Brain Function and Disease, Division of Life Sciences and Medicine, University of Science and Technology of China, Hefei, 230026, China.
Cai Y; Hefei National Research Center for Physical Sciences at the Microscale, Chinese Academy of Sciences Key Laboratory of Brain Function and Disease, Division of Life Sciences and Medicine, University of Science and Technology of China, Hefei, 230026, China. .; First Affiliated Hospital of USTC, School of Life Sciences, Division of Life Sciences and Medicine, University of Science and Technology of China, Hefei, 230026, China. .
Hu B; Hefei National Research Center for Physical Sciences at the Microscale, Chinese Academy of Sciences Key Laboratory of Brain Function and Disease, Division of Life Sciences and Medicine, University of Science and Technology of China, Hefei, 230026, China. .; Research Institute of Frontier Cross Science and Biomedical Sciences, Hefei Comprehensive National Science Center, Division of Life Sciences and Medicine, University of Science and Technology of China, Hefei, 230026, China. .
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Źródło:
Acta neuropathologica communications [Acta Neuropathol Commun] 2022 Dec 17; Vol. 10 (1), pp. 184. Date of Electronic Publication: 2022 Dec 17.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Wolfram Syndrome*/genetics
Wolfram Syndrome*/metabolism
Animals ; Humans ; Zebrafish/metabolism ; Axons/metabolism ; Membrane Proteins/genetics ; Membrane Proteins/metabolism ; Nerve Regeneration ; Endoplasmic Reticulum Stress ; Signal Transduction ; Mutation/genetics
Czasopismo naukowe
Tytuł:
Wolfram syndrome with a rare genetic mutation - Case report.
Autorzy:
Caculo DU; Department of Pediatric Ophthalmology and Strabismus, Sankara Eye Hospital, Bangalore, Karnataka, India.
Murthy SR; Department of Pediatric Ophthalmology and Strabismus, Sankara Eye Hospital, Bangalore, Karnataka, India.
Patil AA; Department of Pediatric Ophthalmology and Strabismus, Sankara Eye Hospital, Bangalore, Karnataka, India.
Peswani SR; Department of Pediatric Ophthalmology and Strabismus, Sankara Eye Hospital, Bangalore, Karnataka, India.
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Źródło:
Indian journal of ophthalmology [Indian J Ophthalmol] 2022 Jul; Vol. 70 (7), pp. 2755-2757.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Wolfram Syndrome*/diagnosis
Wolfram Syndrome*/genetics
Humans ; Mutation
Czasopismo naukowe
Tytuł:
Novel missense WFS1 variant causing autosomal dominant atypical Wolfram syndrome.
Autorzy:
Mair H; Department of Ophthalmology and Visual Sciences-Ophthalmic Genetics Service, University of Kentucky, Lexington, Kentucky, USA.
Fowler N; Department of Ophthalmology and Visual Sciences-Ophthalmic Genetics Service, University of Kentucky, Lexington, Kentucky, USA.
Papatzanaki ME; Department of Ophthalmology, Iassis Medical Center, Chania, Greece.
Sudhakar P; Department of Ophthalmology and Visual Sciences-Ophthalmic Genetics Service, University of Kentucky, Lexington, Kentucky, USA.; Department of Neurology, University of Kentucky, Lexington, Kentucky, USA.
Maldonado RS; Department of Ophthalmology and Visual Sciences-Ophthalmic Genetics Service, University of Kentucky, Lexington, Kentucky, USA.
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Źródło:
Ophthalmic genetics [Ophthalmic Genet] 2022 Aug; Vol. 43 (4), pp. 567-572. Date of Electronic Publication: 2022 Apr 21.
Typ publikacji:
Journal Article
MeSH Terms:
Hearing Loss, Sensorineural*/diagnosis
Hearing Loss, Sensorineural*/genetics
Optic Atrophy*/diagnosis
Optic Atrophy*/genetics
Wolfram Syndrome*/diagnosis
Wolfram Syndrome*/genetics
Humans ; Atrophy ; Membrane Proteins/genetics ; Mutation ; Mutation, Missense
Czasopismo naukowe
Tytuł:
Dysregulated Ca Homeostasis as a Central Theme in Neurodegeneration: Lessons from Alzheimer's Disease and Wolfram Syndrome.
Autorzy:
Callens M; KU Leuven, Laboratory of Molecular & Cellular Signaling, Department of Cellular & Molecular Medicine, Campus Gasthuisberg, O/N-I bus 802, Herestraat 49, BE-3000 Leuven, Belgium.
Loncke J; KU Leuven, Laboratory of Molecular & Cellular Signaling, Department of Cellular & Molecular Medicine, Campus Gasthuisberg, O/N-I bus 802, Herestraat 49, BE-3000 Leuven, Belgium.
Bultynck G; KU Leuven, Laboratory of Molecular & Cellular Signaling, Department of Cellular & Molecular Medicine, Campus Gasthuisberg, O/N-I bus 802, Herestraat 49, BE-3000 Leuven, Belgium.
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Źródło:
Cells [Cells] 2022 Jun 18; Vol. 11 (12). Date of Electronic Publication: 2022 Jun 18.
Typ publikacji:
Journal Article; Review; Research Support, Non-U.S. Gov't
MeSH Terms:
Alzheimer Disease*/metabolism
Wolfram Syndrome*/metabolism
Calcium/metabolism ; Endoplasmic Reticulum/metabolism ; Homeostasis ; Humans
Czasopismo naukowe
Tytuł:
Wolfram syndrome with vitelliform retinal deposits.
Autorzy:
Sabet SJ; Neuro-Ophthalmology Division, Wilmer Eye Institute, Johns Hopkins School of Medicine, Baltimore, Maryland, USA.
Carey AR; Neuro-Ophthalmology Division, Wilmer Eye Institute, Johns Hopkins School of Medicine, Baltimore, Maryland, USA.
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Źródło:
Ophthalmic genetics [Ophthalmic Genet] 2022 Feb; Vol. 43 (1), pp. 116-119. Date of Electronic Publication: 2021 Aug 23.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Optic Atrophy*/genetics
Retinal Degeneration*/complications
Wolfram Syndrome*/diagnosis
Wolfram Syndrome*/genetics
Humans ; Rare Diseases
Czasopismo naukowe
Tytuł:
Retinal vascular impairment in Wolfram syndrome: an optical coherence tomography angiography study.
Autorzy:
Battista M; Department of Ophthalmology, IRCCS Ospedale San Raffaele, University Vita-Salute, Via Olgettina 60, Milan, Italy.
Cascavilla ML; Department of Ophthalmology, IRCCS Ospedale San Raffaele, University Vita-Salute, Via Olgettina 60, Milan, Italy.
Grosso D; Department of Ophthalmology, IRCCS Ospedale San Raffaele, University Vita-Salute, Via Olgettina 60, Milan, Italy.
Borrelli E; Department of Ophthalmology, IRCCS Ospedale San Raffaele, University Vita-Salute, Via Olgettina 60, Milan, Italy.
Frontino G; Diabetes Research Institute, IRCCS Ospedale San Raffaele, University Vita-Salute, Milan, Italy.; Pediatric Department, IRCCS Ospedale San Raffaele, Milan, Italy.
Amore G; Unit of Neurology, Department of Biomedical and NeuroMotor Sciences (DIBINEM), University of Bologna, Bologna, Italy.
Carbonelli M; Unit of Neurology, Department of Biomedical and NeuroMotor Sciences (DIBINEM), University of Bologna, Bologna, Italy.
Bonfanti R; Diabetes Research Institute, IRCCS Ospedale San Raffaele, University Vita-Salute, Milan, Italy.; Pediatric Department, IRCCS Ospedale San Raffaele, Milan, Italy.
Rigamonti A; Diabetes Research Institute, IRCCS Ospedale San Raffaele, University Vita-Salute, Milan, Italy.; Pediatric Department, IRCCS Ospedale San Raffaele, Milan, Italy.
Barresi C; Department of Ophthalmology, IRCCS Ospedale San Raffaele, University Vita-Salute, Via Olgettina 60, Milan, Italy.
Viganò C; Department of Ophthalmology, IRCCS Ospedale San Raffaele, University Vita-Salute, Via Olgettina 60, Milan, Italy.
Tombolini B; Department of Ophthalmology, IRCCS Ospedale San Raffaele, University Vita-Salute, Via Olgettina 60, Milan, Italy.
Crepaldi A; Department of Ophthalmology, IRCCS Ospedale San Raffaele, University Vita-Salute, Via Olgettina 60, Milan, Italy.
Montemagni M; Department of Ophthalmology, Policlinico Federico II, Napoli, Italy.
La Morgia C; UOC Clinica Neurologica, IRCCS Istituto Delle Scienze Neurologiche Di Bologna, Bologna, Italy.
Bandello F; Department of Ophthalmology, IRCCS Ospedale San Raffaele, University Vita-Salute, Via Olgettina 60, Milan, Italy.
Barboni P; Department of Ophthalmology, IRCCS Ospedale San Raffaele, University Vita-Salute, Via Olgettina 60, Milan, Italy. .
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Źródło:
Scientific reports [Sci Rep] 2022 Feb 08; Vol. 12 (1), pp. 2103. Date of Electronic Publication: 2022 Feb 08.
Typ publikacji:
Journal Article
MeSH Terms:
Microcirculation*
Macula Lutea/*blood supply
Microvessels/*pathology
Optic Disk/*blood supply
Wolfram Syndrome/*diagnostic imaging
Adolescent ; Adult ; Angiography ; Child ; Female ; Humans ; Male ; Middle Aged ; Retrospective Studies ; Tomography, Optical Coherence ; Wolfram Syndrome/pathology ; Wolfram Syndrome/physiopathology ; Young Adult
Czasopismo naukowe
Tytuł:
Multiomic analysis on human cell model of wolfram syndrome reveals changes in mitochondrial morphology and function.
Autorzy:
Zmyslowska A; Department of Clinical Genetics, Medical University of Lodz, Pomorska Str. 251, 92-213, Lodz, Poland. .
Kuljanin M; Department of Radiation Oncology, Dana-Farber Cancer Institute, Boston, MA, USA.
Malachowska B; Department of Biostatistics and Translational Medicine, Medical University of Lodz, Lodz, Poland.; Department of Radiation Oncology, Einstein College of Medicine, Bronx, NY, USA.
Stanczak M; Department of Biostatistics and Translational Medicine, Medical University of Lodz, Lodz, Poland.
Michalek D; Department of Biostatistics and Translational Medicine, Medical University of Lodz, Lodz, Poland.
Wlodarczyk A; Department of Tumor Biology, Medical University of Lodz, Lodz, Poland.
Grot D; Department of Tumor Biology, Medical University of Lodz, Lodz, Poland.
Taha J; Central Laboratory for Genetic Research in Pediatric Oncology 'Oncolab', Medical University of Lodz, Lodz, Poland.
Pawlik B; Department of Pediatrics, Oncology and Hematology, Medical University of Lodz, Lodz, Poland.; Postgraduate School of Molecular Medicine, Medical University of Warsaw, Warsaw, Poland.
Lebiedzińska-Arciszewska M; Nencki Institute of Experimental Biology, Polish Academy of Sciences, Warsaw, Poland.
Nieznanska H; Nencki Institute of Experimental Biology, Polish Academy of Sciences, Warsaw, Poland.
Wieckowski MR; Nencki Institute of Experimental Biology, Polish Academy of Sciences, Warsaw, Poland.
Rieske P; Department of Tumor Biology, Medical University of Lodz, Lodz, Poland.
Mancias JD; Department of Radiation Oncology, Dana-Farber Cancer Institute, Boston, MA, USA.
Borowiec M; Department of Clinical Genetics, Medical University of Lodz, Pomorska Str. 251, 92-213, Lodz, Poland.
Mlynarski W; Department of Pediatrics, Oncology and Hematology, Medical University of Lodz, Lodz, Poland.
Fendler W; Department of Radiation Oncology, Dana-Farber Cancer Institute, Boston, MA, USA.; Department of Biostatistics and Translational Medicine, Medical University of Lodz, Lodz, Poland.
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Źródło:
Cell communication and signaling : CCS [Cell Commun Signal] 2021 Nov 20; Vol. 19 (1), pp. 116. Date of Electronic Publication: 2021 Nov 20.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Wolfram Syndrome*
Czasopismo naukowe
Tytuł:
Early Intervention and Lifelong Treatment with GLP1 Receptor Agonist Liraglutide in a Wolfram Syndrome Rat Model with an Emphasis on Visual Neurodegeneration, Sensorineural Hearing Loss and Diabetic Phenotype.
Autorzy:
Jagomäe T; Laboratory Animal Centre, Institute of Biomedicine and Translational Medicine, University of Tartu, 14B Ravila Street, 50411 Tartu, Estonia.; Department of Physiology, Institute of Biomedicine and Translational Medicine, University of Tartu, 19 Ravila Street, 50411 Tartu, Estonia.
Seppa K; Laboratory Animal Centre, Institute of Biomedicine and Translational Medicine, University of Tartu, 14B Ravila Street, 50411 Tartu, Estonia.
Reimets R; Laboratory Animal Centre, Institute of Biomedicine and Translational Medicine, University of Tartu, 14B Ravila Street, 50411 Tartu, Estonia.
Pastak M; Eye Clinic of Tartu University Hospital, L. Puusepa 8 Street, 50406 Tartu, Estonia.
Plaas M; Ear Clinic of Tartu University Hospital, L. Puusepa 1a Street, 50406 Tartu, Estonia.
Hickey MA; Department of Pharmacology, Institute of Biomedicine and Translational Medicine, University of Tartu, 19 Ravila Street, 50411 Tartu, Estonia.
Kukker KG; Laboratory Animal Centre, Institute of Biomedicine and Translational Medicine, University of Tartu, 14B Ravila Street, 50411 Tartu, Estonia.
Moons L; Research Group Neural Circuit Development and Regeneration, Department of Biology, Belgium & Leuven Brain Institute, University of Leuven, Naamsestraat 61, Box 2464, 3000 Leuven, Belgium.
De Groef L; Research Group Neural Circuit Development and Regeneration, Department of Biology, Belgium & Leuven Brain Institute, University of Leuven, Naamsestraat 61, Box 2464, 3000 Leuven, Belgium.
Vasar E; Department of Physiology, Institute of Biomedicine and Translational Medicine, University of Tartu, 19 Ravila Street, 50411 Tartu, Estonia.
Kaasik A; Department of Pharmacology, Institute of Biomedicine and Translational Medicine, University of Tartu, 19 Ravila Street, 50411 Tartu, Estonia.
Terasmaa A; Laboratory Animal Centre, Institute of Biomedicine and Translational Medicine, University of Tartu, 14B Ravila Street, 50411 Tartu, Estonia.
Plaas M; Laboratory Animal Centre, Institute of Biomedicine and Translational Medicine, University of Tartu, 14B Ravila Street, 50411 Tartu, Estonia.; Department of Physiology, Institute of Biomedicine and Translational Medicine, University of Tartu, 19 Ravila Street, 50411 Tartu, Estonia.
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Źródło:
Cells [Cells] 2021 Nov 16; Vol. 10 (11). Date of Electronic Publication: 2021 Nov 16.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Diabetes Mellitus, Experimental/*drug therapy
Glucagon-Like Peptide-1 Receptor/*agonists
Hearing Loss, Sensorineural/*drug therapy
Liraglutide/*therapeutic use
Nerve Degeneration/*drug therapy
Visual Pathways/*pathology
Wolfram Syndrome/*drug therapy
Animals ; C-Peptide/metabolism ; Diabetes Mellitus, Experimental/complications ; Disease Models, Animal ; Glucagon-Like Peptide-1 Receptor/metabolism ; Hearing Loss, Sensorineural/complications ; Liraglutide/pharmacology ; Male ; Nerve Degeneration/complications ; Optic Nerve/drug effects ; Optic Nerve/pathology ; Optic Nerve/ultrastructure ; Phenotype ; Rats ; Visual Pathways/drug effects ; Wolfram Syndrome/complications
Czasopismo naukowe
Tytuł:
A mutant wfs1 zebrafish model of Wolfram syndrome manifesting visual dysfunction and developmental delay.
Autorzy:
Cairns G; International Centre for Life, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.; Interdisciplinary School of Health Science, Faculty of Health Sciences, University of Ottawa, Ottawa, Canada.
Burté F; International Centre for Life, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.
Price R; International Centre for Life, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.
O'Connor E; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada.
Toms M; UCL Institute of Ophthalmology, University College London, London, UK.
Mishra R; John van Geest Centre for Brain Repair and MRC Mitochondrial Biology Unit, Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK.
Moosajee M; UCL Institute of Ophthalmology, University College London, London, UK.; Moorfields Eye Hospital NHS Foundation Trust, London, UK.; Great Ormond Street Hospital for Children NHS Foundation, Trust, London, UK.
Pyle A; The Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK.
Sayer JA; International Centre for Life, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.; Department of Renal Medicine, Freeman Hospital, The Newcastle Upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.; National Institute for Health Research Newcastle Biomedical Research Centre, Newcastle upon Tyne, UK.
Yu-Wai-Man P; UCL Institute of Ophthalmology, University College London, London, UK. .; John van Geest Centre for Brain Repair and MRC Mitochondrial Biology Unit, Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK. .; Moorfields Eye Hospital NHS Foundation Trust, London, UK. .; Cambridge Eye Unit, Addenbrooke's Hospital, Cambridge University Hospitals, Cambridge, UK. .
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Źródło:
Scientific reports [Sci Rep] 2021 Oct 14; Vol. 11 (1), pp. 20491. Date of Electronic Publication: 2021 Oct 14.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Membrane Proteins/*genetics
Membrane Proteins/*metabolism
Wolfram Syndrome/*genetics
Wolfram Syndrome/*physiopathology
Animals ; Codon, Nonsense ; Disease Models, Animal ; Gene Knockout Techniques ; Mutation ; Optic Atrophy ; Unfolded Protein Response ; Wolfram Syndrome/metabolism ; Zebrafish
Czasopismo naukowe
Tytuł:
A novel mutation of WFS1 gene leading to increase ER stress and cell apoptosis is associated an autosomal dominant form of Wolfram syndrome type 1.
Autorzy:
Gong Y; Department of Endocrinology, The First Affiliated Hospital of Sun Yat-sen University, 58 Zhongshan Road 2, Guangzhou, 510080, P. R. China.; Department of Geriatrics, The First Affiliated Hospital of Sun Yat-sen University, Guangzhou, 510080, Guangdong, China.
Xiong L; Department of Endocrinology, The First Affiliated Hospital of Sun Yat-sen University, 58 Zhongshan Road 2, Guangzhou, 510080, P. R. China.
Li X; Department of Endocrinology, The First Affiliated Hospital of Sun Yat-sen University, 58 Zhongshan Road 2, Guangzhou, 510080, P. R. China.
Su L; Department of Endocrinology, The First Affiliated Hospital of Sun Yat-sen University, 58 Zhongshan Road 2, Guangzhou, 510080, P. R. China.; Department of Geriatrics, The First Affiliated Hospital of Sun Yat-sen University, Guangzhou, 510080, Guangdong, China.
Xiao H; Department of Endocrinology, The First Affiliated Hospital of Sun Yat-sen University, 58 Zhongshan Road 2, Guangzhou, 510080, P. R. China. .
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Źródło:
BMC endocrine disorders [BMC Endocr Disord] 2021 Apr 21; Vol. 21 (1), pp. 76. Date of Electronic Publication: 2021 Apr 21.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Wolfram Syndrome*/genetics
Wolfram Syndrome*/metabolism
Wolfram Syndrome*/pathology
Apoptosis/*genetics
Endoplasmic Reticulum Stress/*genetics
Membrane Proteins/*genetics
Adult ; China ; Genes, Dominant ; Heterozygote ; Humans ; Male ; Mutation ; Polymorphism, Single Nucleotide
Czasopismo naukowe

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