Temat: "Eye Proteins" - OpacWWW

Skocz do pozycji: 1.

Tytuł:: Pigment epithelium‑derived factor inhibits proliferation, invasion and angiogenesis, and induces ferroptosis of extravillous trophoblasts by targeting Wnt‑β‑catenin/VEGF signaling in placenta accreta spectrum.
Autorzy:: Li R; Department of Obstetrics and Gynecology, Shengli Clinical Medical College of Fujian Medical University, Fuzhou, Fujian 350028, P.R. China.
Weng X; Department of Obstetrics and Gynecology, Shengli Clinical Medical College of Fujian Medical University, Fuzhou, Fujian 350028, P.R. China.
Hu X; Department of Obstetrics and Gynecology, Shengli Clinical Medical College of Fujian Medical University, Fuzhou, Fujian 350028, P.R. China.
Wang J; Department of Clinical Laboratory, Shengli Clinical Medical College of Fujian Medical University, Fuzhou, Fujian 350028, P.R. China.
Zheng L; Department of Obstetrics and Gynecology, Shengli Clinical Medical College of Fujian Medical University, Fuzhou, Fujian 350028, P.R. China.; Pokaż więcej
Źródło:: Molecular medicine reports [Mol Med Rep] 2024 May; Vol. 29 (5). Date of Electronic Publication: 2024 Mar 15.
Typ publikacji:: Journal Article
MeSH Terms:: Placenta Accreta*/metabolism
Ferroptosis*
Eye Proteins*
Nerve Growth Factors*
Serpins*
Pregnancy ; Humans ; Female ; Vascular Endothelial Growth Factor A/metabolism ; Extravillous Trophoblasts ; beta Catenin/metabolism ; Trophoblasts/metabolism ; Wnt Signaling Pathway ; Angiogenesis ; Cell Proliferation ; Cell Movement ; Placenta/metabolism

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Skocz do pozycji: 2.

Tytuł:: Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.
Autorzy:: Hitti-Malin RJ; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands.
Panneman DM; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands.
Corradi Z; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands.
Boonen EGM; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands.
Astuti G; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands.
Dhaenens CM; Univ. Lille, Inserm, CHU Lille, U1172-LilNCog-Lille Neuroscience & Cognition, F-59000 Lille, France.
Stöhr H; Institute of Human Genetics, University of Regensburg, 93053 Regensburg, Germany.
Weber BHF; Institute of Human Genetics, University of Regensburg, 93053 Regensburg, Germany.; Institute of Clinical Human Genetics, University Hospital Regensburg, 93053 Regensburg, Germany.
Sharon D; Department of Ophthalmology, Hadassah Medical Center, Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem 91120, Israel.
Banin E; Department of Ophthalmology, Hadassah Medical Center, Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem 91120, Israel.
Karali M; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', 80138 Naples, Italy.; Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, University of Campania 'Luigi Vanvitelli', 80131 Naples, Italy.
Banfi S; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', 80138 Naples, Italy.; Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, University of Campania 'Luigi Vanvitelli', 80131 Naples, Italy.; Telethon Institute of Genetics and Medicine (TIGEM), 80078 Pozzuoli, Italy.
Ben-Yosef T; Ruth and Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa 31096, Israel.
Glavač D; Department of Molecular Genetics, Institute of Pathology, Faculty of Medicine, University of Ljubljana, 1000 Ljubljana, Slovenia.; Center for Human Genetics and Pharmacogenomics, Faculty of Medicine, University of Maribor, 2000 Maribor, Slovenia.
Farrar GJ; The School of Genetics and Microbiology, The University of Dublin Trinity College, D02 VF25 Dublin, Ireland.
Ayuso C; Department of Genetics, Health Research Institute-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), 28049 Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.
Liskova P; Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, 128 08 Prague, Czech Republic.; Department of Ophthalmology, First Faculty of Medicine, Charles University and General University Hospital in Prague, 128 08 Prague, Czech Republic.
Dudakova L; Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, 128 08 Prague, Czech Republic.
Vajter M; Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, 128 08 Prague, Czech Republic.; Department of Ophthalmology, First Faculty of Medicine, Charles University and General University Hospital in Prague, 128 08 Prague, Czech Republic.
Ołdak M; Department of Histology and Embryology, Medical University of Warsaw, 02-004 Warsaw, Poland.
Szaflik JP; Department of Ophthalmology, Medical University of Warsaw, SPKSO Ophthalmic University Hospital, 03-709 Warsaw, Poland.
Matynia A; College of Optometry, University of Houston, Houston, TX 77004, USA.; Jules Stein Eye Institute, Los Angeles, CA 90095, USA.; Ophthalmology, University of California Los Angeles David Geffen School of Medicine, Los Angeles, CA 90095, USA.
Gorin MB; Jules Stein Eye Institute, Los Angeles, CA 90095, USA.
Kämpjärvi K; Blueprint Genetics, 02150 Espoo, Finland.
Bauwens M; Department of Biomolecular Medicine, Ghent University, 9000 Ghent, Belgium.; Center for Medical Genetics, Ghent University Hospital, 9000 Ghent, Belgium.
De Baere E; Department of Biomolecular Medicine, Ghent University, 9000 Ghent, Belgium.; Center for Medical Genetics, Ghent University Hospital, 9000 Ghent, Belgium.
Hoyng CB; Department of Ophthalmology, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.
Li CHZ; Department of Ophthalmology, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.
Klaver CCW; Department of Ophthalmology, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.
Inglehearn CF; Division of Molecular Medicine, Leeds Institute of Medical Research, St. James's University Hospital, University of Leeds, Leeds LS9 7TF, UK.
Fujinami K; Department of Ophthalmology, The Jikei University School of Medicine, Tokyo 105-8461, Japan.
Rivolta C; Institute of Molecular and Clinical Ophthalmology Basel, 4031 Basel, Switzerland.
Allikmets R; Department of Ophthalmology, Columbia University, New York, NY 10027, USA.; Department of Pathology & Cell Biology, Columbia University, New York, NY 10027, USA.
Zernant J; Department of Ophthalmology, Columbia University, New York, NY 10027, USA.
Lee W; Department of Ophthalmology, Columbia University, New York, NY 10027, USA.
Podhajcer OL; Laboratorio de Terapia Molecular y Celular (Genocan), Fundación Instituto Leloir, CONICET, Buenos Aires 1405, Argentina.
Fakin A; Eye Hospital, University Medical Centre Ljubljana, 1000 Ljubljana, Slovenia.; Faculty of Medicine, University of Ljubljana, 1000 Ljubljana, Slovenia.
Sajovic J; Eye Hospital, University Medical Centre Ljubljana, 1000 Ljubljana, Slovenia.; Faculty of Medicine, University of Ljubljana, 1000 Ljubljana, Slovenia.
AlTalbishi A; St John of Jerusalem Eye Hospital Group, East Jerusalem 91198, Palestine.
Valeina S; Department of Ophthalmology, Riga Stradins University, LV-1007 Riga, Latvia.; Children's Clinical University Hospital, LV-1004 Riga, Latvia.
Taurina G; Children's Clinical University Hospital, LV-1004 Riga, Latvia.
Vincent AL; Department of Ophthalmology, New Zealand National Eye Centre, Faculty of Medical and Health Sciences, The University of Auckland, Grafton, Auckland 1023, New Zealand.; Eye Department, Greenlane Clinical Centre, Auckland District Health Board, Auckland 1142, New Zealand.
Roberts L; University of Cape Town/MRC Precision and Genomic Medicine Research Unit, Division of Human Genetics, Department of Pathology, Institute of Infectious Disease and Molecular Medicine (IDM), Faculty of Health Sciences, University of Cape Town, Cape Town 7925, South Africa.
Ramesar R; University of Cape Town/MRC Precision and Genomic Medicine Research Unit, Division of Human Genetics, Department of Pathology, Institute of Infectious Disease and Molecular Medicine (IDM), Faculty of Health Sciences, University of Cape Town, Cape Town 7925, South Africa.
Sartor G; Department of Pharmacy and Biotechnology, University of Bologna, 40127 Bologna, Italy.
Luppi E; Department of Medical and Surgical Sciences, University of Bologna, 40127 Bologna, Italy.; Unit of Medical Genetics, IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138 Bologna, Italy.
Downes SM; Nuffield Laboratory of Ophthalmology, Nuffield Department of Clinical Neurosciences, Oxford University, Oxford OX3 9DU, UK.; Oxford Eye Hospital, Oxford University NHS Foundation Trust, Oxford OX3 9DU, UK.
van den Born LI; The Rotterdam Eye Hospital, 3011 BH Rotterdam, The Netherlands.
McLaren TL; Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Nedlands, WA 6009, Australia.; Centre for Ophthalmology and Visual Science, The University of Western Australia, Nedlands, WA 6009, Australia.
De Roach JN; Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Nedlands, WA 6009, Australia.; Centre for Ophthalmology and Visual Science, The University of Western Australia, Nedlands, WA 6009, Australia.
Lamey TM; Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Nedlands, WA 6009, Australia.; Centre for Ophthalmology and Visual Science, The University of Western Australia, Nedlands, WA 6009, Australia.
Thompson JA; Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Nedlands, WA 6009, Australia.
Chen FK; Centre for Ophthalmology and Visual Science, The University of Western Australia, Nedlands, WA 6009, Australia.
Tracewska AM; Datana Solutions, 54-530 Wroclaw, Poland.
Kamakari S; Ophthalmic Genetics Unit, OMMA Ophthalmological Institute of Athens, 115 25 Athens, Greece.
Sallum JMF; Department of Ophthalmology and Visual Sciences, Universidade Federal de São Paulo, São Paulo 04023-062, SP, Brazil.; Instituto de Genética Ocular, São Paulo 04552-050, SP, Brazil.
Bolz HJ; Institute of Human Genetics, University Hospital of Cologne, 50937 Cologne, Germany.
Kayserili H; Department of Medical Genetics, Koc University School of Medicine (KUSOM), 34450 Istanbul, Turkey.
Roosing S; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands.
Cremers FPM; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands.; Pokaż więcej
Źródło:: Biomolecules [Biomolecules] 2024 Mar 19; Vol. 14 (3). Date of Electronic Publication: 2024 Mar 19.
Typ publikacji:: Journal Article
MeSH Terms:: Macular Degeneration*/genetics
Humans ; Mutation ; Penetrance ; Pedigree ; Retina ; Phenotype ; ATP-Binding Cassette Transporters/genetics ; Eye Proteins ; Cadherin Related Proteins ; Nerve Tissue Proteins/genetics

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Skocz do pozycji: 3.

Tytuł:: A Precision Therapy Approach for Retinitis Pigmentosa 11 Using Splice-Switching Antisense Oligonucleotides to Restore the Open Reading Frame of PRPF31.
Autorzy:: Grainok J; Department of Biochemistry, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok 10700, Thailand.; Health Futures Institute, Murdoch University, Murdoch, WA 6150, Australia.
Pitout IL; Health Futures Institute, Murdoch University, Murdoch, WA 6150, Australia.
Chen FK; Centre for Ophthalmology and Visual Science, University of Western Australia, Nedlands, WA 6009, Australia.; Lions Eye Institute, Nedlands, WA 6009, Australia.; Department of Ophthalmology, Royal Perth Hospital, Perth, WA 6000, Australia.; Department of Surgery, University of Melbourne, East Melbourne, VIC 3002, Australia.
McLenachan S; Centre for Ophthalmology and Visual Science, University of Western Australia, Nedlands, WA 6009, Australia.; Lions Eye Institute, Nedlands, WA 6009, Australia.
Heath Jeffery RC; Centre for Ophthalmology and Visual Science, University of Western Australia, Nedlands, WA 6009, Australia.; Lions Eye Institute, Nedlands, WA 6009, Australia.
Mitrpant C; Department of Biochemistry, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok 10700, Thailand.
Fletcher S; Health Futures Institute, Murdoch University, Murdoch, WA 6150, Australia.; Pokaż więcej
Źródło:: International journal of molecular sciences [Int J Mol Sci] 2024 Mar 16; Vol. 25 (6). Date of Electronic Publication: 2024 Mar 16.
Typ publikacji:: Journal Article
MeSH Terms:: RNA Precursors*/genetics
Oligonucleotides, Antisense*/genetics
Oligonucleotides, Antisense*/therapeutic use
Retinitis Pigmentosa*
Humans ; Open Reading Frames ; Mutation ; Codon, Nonsense ; Eye Proteins/genetics ; Eye Proteins/metabolism ; Pedigree
SCR Disease Name:: Retinitis Pigmentosa 11

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Skocz do pozycji: 4.

Tytuł:: Primary Ciliary Dyskinesia and Retinitis Pigmentosa: Novel RPGR Variant and Possible Modifier Gene.
Autorzy:: Baz-Redón N; Growth and Development Research Group, Vall d'Hebron Research Institute (VHIR), Hospital Universitari Vall d'Hebron, 08035 Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.
Sánchez-Bellver L; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.; Departament de Genètica, Microbiologia i Estadística, Universitat de Barcelona, 08028 Barcelona, Spain.
Fernández-Cancio M; Growth and Development Research Group, Vall d'Hebron Research Institute (VHIR), Hospital Universitari Vall d'Hebron, 08035 Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.
Rovira-Amigo S; Growth and Development Research Group, Vall d'Hebron Research Institute (VHIR), Hospital Universitari Vall d'Hebron, 08035 Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.; Department of Paediatrics, Vall d'Hebron Hospital Universitari, Vall d'Hebron Barcelona Hospital Campus, 08035 Barcelona, Spain.
Burgoyne T; Royal Brompton Hospital, Guy's and St Thomas' NHS Foundation Trust, London SW3 6NP, UK.; Institute of Ophthalmology, University College London, London EC1V 9EL, UK.
Ranjit R; Royal Brompton Hospital, Guy's and St Thomas' NHS Foundation Trust, London SW3 6NP, UK.
Aquino V; Plataforma Andaluza de Medicina Computacional, Fundación Pública Andaluza Progreso y Salud, 41092 Sevilla, Spain.
Toro-Barrios N; Plataforma Andaluza de Medicina Computacional, Fundación Pública Andaluza Progreso y Salud, 41092 Sevilla, Spain.
Carmona R; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.; Plataforma Andaluza de Medicina Computacional, Fundación Pública Andaluza Progreso y Salud, 41092 Sevilla, Spain.
Polverino E; Pneumology Research Group, Vall d'Hebron Research Institute (VHIR), Hospital Universitari Vall d'Hebron, 08035 Barcelona, Spain.; Pneumology Department, Vall d'Hebron Hospital Universitari, Vall d'Hebron Barcelona Hospital Campus, 08035 Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Respiratorias (CIBERES), Instituto de Salud Carlos III, 28029 Madrid, Spain.
Cols M; Paediatric Pulmonology Department and Cystic Fibrosis Unit, Hospital Sant Joan de Déu, 08950 Esplugues de Llobregat, Spain.
Moreno-Galdó A; Growth and Development Research Group, Vall d'Hebron Research Institute (VHIR), Hospital Universitari Vall d'Hebron, 08035 Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.; Department of Paediatrics, Vall d'Hebron Hospital Universitari, Vall d'Hebron Barcelona Hospital Campus, 08035 Barcelona, Spain.; Department of Paediatrics, Obstetrics, Gynecology, Preventive Medicine and Public Health, Universitat Autònoma de Barcelona, 08193 Bellaterra, Spain.
Camats-Tarruella N; Growth and Development Research Group, Vall d'Hebron Research Institute (VHIR), Hospital Universitari Vall d'Hebron, 08035 Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.
Marfany G; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.; Departament de Genètica, Microbiologia i Estadística, Universitat de Barcelona, 08028 Barcelona, Spain.; Institute of Biomedicine (IBUB-IRSJD), Universitat de Barcelona, 08028 Barcelona, Spain.; Pokaż więcej
Źródło:: Cells [Cells] 2024 Mar 16; Vol. 13 (6). Date of Electronic Publication: 2024 Mar 16.
Typ publikacji:: Case Reports; Journal Article
MeSH Terms:: Ciliary Motility Disorders*/genetics
Retinitis Pigmentosa*/genetics
Humans ; Male ; Eye Proteins/metabolism ; Genes, Modifier ; Mutation

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Skocz do pozycji: 5.

Tytuł:: Retinal Ciliopathies and Potential Gene Therapies: A Focus on Human iPSC-Derived Organoid Models.
Autorzy:: McDonald A; Department of Ophthalmology, Leiden University Medical Center (LUMC), 2333 ZC Leiden, The Netherlands.
Wijnholds J; Department of Ophthalmology, Leiden University Medical Center (LUMC), 2333 ZC Leiden, The Netherlands.; Netherlands Institute of Neuroscience, Royal Netherlands Academy of Arts and Sciences (KNAW), 1105 BA Amsterdam, The Netherlands.; Pokaż więcej
Źródło:: International journal of molecular sciences [Int J Mol Sci] 2024 Mar 01; Vol. 25 (5). Date of Electronic Publication: 2024 Mar 01.
Typ publikacji:: Journal Article; Review
MeSH Terms:: Induced Pluripotent Stem Cells*/metabolism
Retinal Degeneration*/metabolism
Ciliopathies*/metabolism
Animals ; Humans ; Retina/metabolism ; Genetic Therapy ; Organoids/metabolism ; Eye Proteins/metabolism

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Skocz do pozycji: 6.

Tytuł:: Synergy between PEDF and Doxorubicin in Breast Cancer Cells: Effects on Metastatic and Metabolic Pathways.
Autorzy:: Abooshahab R; Curtin Medical School, Curtin University, Bentley 6102, Australia.; Curtin Health Innovation Research Institute, Bentley 6102, Australia.
Al-Salami H; Curtin Medical School, Curtin University, Bentley 6102, Australia.; Biotechnology and Drug Development Research Laboratory, Curtin Health Innovation Research Institute, Bentley 6102, Australia.
Dass CR; Curtin Medical School, Curtin University, Bentley 6102, Australia.; Curtin Health Innovation Research Institute, Bentley 6102, Australia.; Pokaż więcej
Źródło:: International journal of molecular sciences [Int J Mol Sci] 2024 Feb 27; Vol. 25 (5). Date of Electronic Publication: 2024 Feb 27.
Typ publikacji:: Journal Article
MeSH Terms:: Serpins*/metabolism
Breast Neoplasms*
Eye Proteins*
Nerve Growth Factors*
Humans ; Female ; Proto-Oncogene Proteins c-akt/metabolism ; Doxorubicin/pharmacology ; MCF-7 Cells ; Cell Line, Tumor ; Apoptosis

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Skocz do pozycji: 7.

Tytuł:: AAV-RPGR Gene Therapy Rescues Opsin Mislocalisation in a Human Retinal Organoid Model of RPGR -Associated X-Linked Retinitis Pigmentosa.
Autorzy:: Sladen PE; MeiraGTx UK II, 34-38 Provost Street, London N1 7NG, UK.
Naeem A; MeiraGTx UK II, 34-38 Provost Street, London N1 7NG, UK.
Adefila-Ideozu T; MeiraGTx UK II, 34-38 Provost Street, London N1 7NG, UK.
Vermeule T; MeiraGTx UK II, 34-38 Provost Street, London N1 7NG, UK.
Busson SL; MeiraGTx UK II, 34-38 Provost Street, London N1 7NG, UK.
Michaelides M; MeiraGTx UK II, 34-38 Provost Street, London N1 7NG, UK.; Moorfields Eye Hospital, 162 City Road, London EC1V 2PD, UK.; University College London Institute of Ophthalmology, London EC1V 9LF, UK.
Naylor S; MeiraGTx UK II, 34-38 Provost Street, London N1 7NG, UK.
Forbes A; MeiraGTx UK II, 34-38 Provost Street, London N1 7NG, UK.
Lane A; MeiraGTx UK II, 34-38 Provost Street, London N1 7NG, UK.
Georgiadis A; MeiraGTx UK II, 34-38 Provost Street, London N1 7NG, UK.; Pokaż więcej
Źródło:: International journal of molecular sciences [Int J Mol Sci] 2024 Feb 02; Vol. 25 (3). Date of Electronic Publication: 2024 Feb 02.
Typ publikacji:: Journal Article
MeSH Terms:: Opsins*/genetics
Retinitis Pigmentosa*/genetics
Retinitis Pigmentosa*/therapy
Retinitis Pigmentosa*/metabolism
Humans ; Dependovirus/genetics ; Dependovirus/metabolism ; Eye Proteins/genetics ; Eye Proteins/metabolism ; Reactive Oxygen Species/metabolism ; Carrier Proteins/metabolism ; Rhodopsin/genetics ; Genetic Therapy/methods ; Mutation

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Skocz do pozycji: 8.

Tytuł:: Novel hemizygous single-nucleotide duplication in RPGR in a patient with retinal dystrophy and sensorineural hearing loss.
Autorzy:: German RJ; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, Texas, USA.
Vuocolo B; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, Texas, USA.
Vossaert L; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Baylor Genetics Laboratories, Houston, Texas, USA.
Owen N; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Baylor Genetics Laboratories, Houston, Texas, USA.
Lewis RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Department of Medicine, Baylor College of Medicine, Houston, Texas, USA.; Department of Ophthalmology, Baylor College of Medicine, Houston, Texas, USA.
Saba L; Department of Pathology, Texas Children's Hospital, Houston, Texas, USA.
Wangler MF; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA.
Nagamani S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Department of Medicine, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA.; Pokaż więcej
Corporate Authors:: Texome Project
Źródło:: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Feb; Vol. 12 (2), pp. e2404.
Typ publikacji:: Case Reports; Journal Article
MeSH Terms:: Retinitis Pigmentosa*/genetics
Retinitis Pigmentosa*/diagnosis
Hearing Loss, Sensorineural*/genetics
Male ; Humans ; Middle Aged ; Eye Proteins/genetics ; Genetic Testing ; Genes, X-Linked

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Skocz do pozycji: 9.

Tytuł:: Acute-Phase Plasma Pigment Epithelium-Derived Factor Predicting Outcomes after Aneurysmal Subarachnoid Hemorrhage in the Elderly.
Autorzy:: Nampei M; Department of Neurosurgery, Mie University Graduate School of Medicine, Tsu 514-8507, Japan.
Suzuki Y; Department of Neurosurgery, Mie University Graduate School of Medicine, Tsu 514-8507, Japan.
Nakajima H; Department of Neurosurgery, Mie University Graduate School of Medicine, Tsu 514-8507, Japan.
Oinaka H; Department of Neurosurgery, Mie University Graduate School of Medicine, Tsu 514-8507, Japan.
Kawakita F; Department of Neurosurgery, Mie University Graduate School of Medicine, Tsu 514-8507, Japan.
Suzuki H; Department of Neurosurgery, Mie University Graduate School of Medicine, Tsu 514-8507, Japan.
pSEED Group; Department of Neurosurgery, Mie University Graduate School of Medicine, Tsu 514-8507, Japan.; Pokaż więcej
Źródło:: International journal of molecular sciences [Int J Mol Sci] 2024 Jan 30; Vol. 25 (3). Date of Electronic Publication: 2024 Jan 30.
Typ publikacji:: Journal Article
MeSH Terms:: Serpins*/blood
Serpins*/chemistry
Subarachnoid Hemorrhage*/blood
Subarachnoid Hemorrhage*/diagnosis
Aged ; Humans ; Biomarkers ; Eye Proteins ; Nerve Growth Factors ; Treatment Outcome

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Skocz do pozycji: 10.

Tytuł:: Where are the links? Using a causal loop diagram to assess interactions in healthcare coordination for youth experiencing homelessness in Toronto, Canada.
Autorzy:: Hudani A; Interdisciplinary School of Health Sciences, University of Ottawa, Ottawa, Canada.
Long J; Centre for Healthcare Resilience and Implementation Science, Australian Institute of Health Innovation, Macquarie University, Sydney, Australia.
Labonté R; School of Epidemiology and Public Health, University of Ottawa, Ottawa, Canada.
Yaya S; School of International Development and Global Studies, University of Ottawa, 120 University Private, Ottawa, ON, K1N 6N5, Canada. .; Pokaż więcej
Źródło:: Health research policy and systems [Health Res Policy Syst] 2024 Jan 30; Vol. 22 (1), pp. 19. Date of Electronic Publication: 2024 Jan 30.
Typ publikacji:: Journal Article; Review
MeSH Terms:: Aftercare*
Ill-Housed Persons*
Adolescent ; Humans ; Delivery of Health Care ; Eye Proteins ; Patient Discharge ; Social Problems

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Skocz do pozycji: 11.

Tytuł:: Sources of Variance in Human Tear Proteomic Samples: Statistical Evaluation, Quality Control, Normalization, and Biological Insight.
Autorzy:: Bruszel B; Department of Medical Chemistry, Albert Szent-Györgyi Medical School, University of Szeged, Dóm tér 8, H-6720 Szeged, Hungary.
Tóth-Molnár E; Department of Ophtalmology, Albert Szent-Györgyi Health Centre, University of Szeged, Korányi Fasor 10-11, H-6720 Szeged, Hungary.
Janáky T; Department of Medical Chemistry, Albert Szent-Györgyi Medical School, University of Szeged, Dóm tér 8, H-6720 Szeged, Hungary.
Szabó Z; Department of Medical Chemistry, Albert Szent-Györgyi Medical School, University of Szeged, Dóm tér 8, H-6720 Szeged, Hungary.; Pokaż więcej
Źródło:: International journal of molecular sciences [Int J Mol Sci] 2024 Jan 26; Vol. 25 (3). Date of Electronic Publication: 2024 Jan 26.
Typ publikacji:: Journal Article
MeSH Terms:: Proteome*/metabolism
Proteomics*/methods
Humans ; Pilot Projects ; Tears/metabolism ; Eye Proteins/metabolism ; Quality Control

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Skocz do pozycji: 12.

Tytuł:: The Road towards Gene Therapy for X-Linked Juvenile Retinoschisis: A Systematic Review of Preclinical Gene Therapy in Cell-Based and Rodent Models of XLRS.
Autorzy:: van der Veen I; Department of Ophthalmology, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands.; Department of Human Genetics, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands.
Heredero Berzal A; Department of Ophthalmology, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands.; Department of Human Genetics, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands.
Koster C; Department of Ophthalmology, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands.; Department of Human Genetics, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands.
Ten Asbroek ALMA; Department of Human Genetics, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands.
Bergen AA; Department of Ophthalmology, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands.; Department of Human Genetics, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands.
Boon CJF; Department of Ophthalmology, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands.; Department of Ophthalmology, Leiden University Medical Center, Leiden University, Albinusdreef 2, 2333 ZA Leiden, The Netherlands.; Pokaż więcej
Źródło:: International journal of molecular sciences [Int J Mol Sci] 2024 Jan 19; Vol. 25 (2). Date of Electronic Publication: 2024 Jan 19.
Typ publikacji:: Systematic Review; Journal Article; Review
MeSH Terms:: Retinoschisis*/genetics
Retinoschisis*/therapy
Retinoschisis*/diagnosis
Male ; Humans ; Animals ; Mice ; Retina/pathology ; Electroretinography ; Genetic Therapy ; Mutation ; Eye Proteins/genetics

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Skocz do pozycji: 13.

Tytuł:: Genomics and tumor microenvironment of breast mucoepidermoid carcinoma based on whole-exome and RNA sequencing.
Autorzy:: Ge Y; Department of Pathology, Guangdong Provincial People's Hospital/Guangdong Academy of Medical Sciences, Southern Medical University, Guangzhou, China. .; Department of Pathology, Guangdong Provincial People' s Hospital Ganzhou Hospital (Ganzhou Municipal Hospital), 49 Dagong Road, Zhanggong District, Ganzhou, China. .
Lin X; Department of Pathology, Guangdong Provincial People's Hospital/Guangdong Academy of Medical Sciences, Southern Medical University, Guangzhou, China.
He J; Department of Pathology, Guangdong Provincial People's Hospital/Guangdong Academy of Medical Sciences, Southern Medical University, Guangzhou, China.
Chen W; Department of Pathology, Guangdong Provincial People's Hospital/Guangdong Academy of Medical Sciences, Southern Medical University, Guangzhou, China.
Lin D; Department of Pathology, Guangdong Provincial People's Hospital/Guangdong Academy of Medical Sciences, Southern Medical University, Guangzhou, China.
Zheng Y; Department of Pathology, Guangdong Provincial People' s Hospital Ganzhou Hospital (Ganzhou Municipal Hospital), 49 Dagong Road, Zhanggong District, Ganzhou, China.
Yang L; Geneseeq Research Institute, Geneseeq Technology Inc., Nanjing, China.
Xu F; Department of Pathology, Guangdong Provincial People's Hospital/Guangdong Academy of Medical Sciences, Southern Medical University, Guangzhou, China. .
Li Z; Department of Pathology, Guangdong Provincial People's Hospital/Guangdong Academy of Medical Sciences, Southern Medical University, Guangzhou, China. .; Pokaż więcej
Źródło:: Diagnostic pathology [Diagn Pathol] 2024 Jan 19; Vol. 19 (1), pp. 15. Date of Electronic Publication: 2024 Jan 19.
Typ publikacji:: Journal Article
MeSH Terms:: Carcinoma, Mucoepidermoid*/genetics
Carcinoma, Mucoepidermoid*/pathology
Breast Neoplasms*/genetics
Salivary Gland Neoplasms*/genetics
Salivary Gland Neoplasms*/pathology
Humans ; Female ; DNA-Binding Proteins/genetics ; Trans-Activators/genetics ; Retrospective Studies ; Exome ; Exome Sequencing ; Tumor Microenvironment ; Transcription Factors/genetics ; Genomics ; Sequence Analysis, RNA ; Eye Proteins/genetics

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Skocz do pozycji: 14.

Tytuł:: Novel and known variants in GJA3 and LIM2 in congenital cataract families from North India.
Autorzy:: Goyal S; Department of Human Genetics, Guru Nanak Dev University (GNDU), Amritsar, 143005, Punjab, India.
Singh R; Dr. Daljit, Singh Eye Hospital, Amritsar, 143001, Punjab, India.
Singh JR; Department of Human Genetics, Guru Nanak Dev University (GNDU), Amritsar, 143005, Punjab, India.
Vanita V; Department of Human Genetics, Guru Nanak Dev University (GNDU), Amritsar, 143005, Punjab, India. vanita_.; Pokaż więcej
Źródło:: BMC genomics [BMC Genomics] 2024 Jan 04; Vol. 25 (1), pp. 31. Date of Electronic Publication: 2024 Jan 04.
Typ publikacji:: Journal Article
MeSH Terms:: Cataract*/genetics
Connexins*/genetics
Eye Proteins*/genetics
Membrane Proteins*/genetics
Humans ; DNA Mutational Analysis ; Mutation ; Pedigree ; Phenotype
SCR Disease Name:: Cataract, Coppock-Like

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Skocz do pozycji: 15.

Tytuł:: Novel mutation in the NDP gene associated with Norrie disease in a Chinese pedigree.
Autorzy:: Jiang K; Department of Ophthalmology, Zhengda Guangming Ophthalmology Group, Weifang Eye Hospital, Weifang, China.
Wang S; Department of Ophthalmology, Gaomi People's Hospital, Weifang, China.
Sun H; Department of Ophthalmology, Weifang Medical University, Weifang, China.
Peng C; Department of Ophthalmology, Weifang Medical University, Weifang, China.
Li N; Department of Ophthalmology, Zhengda Guangming Ophthalmology Group, Weifang Eye Hospital, Weifang, China.
Li S; Department of Ophthalmology, Zhengda Guangming Ophthalmology Group, Weifang Eye Hospital, Weifang, China.
Gao R; Department of Ophthalmology, Zhengda Guangming Ophthalmology Group, Weifang Eye Hospital, Weifang, China.
Zhang J; Department of Ophthalmology, Zhengda Guangming Ophthalmology Group, Weifang Eye Hospital, Weifang, China.; Pokaż więcej
Źródło:: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Jan; Vol. 12 (1), pp. e2345. Date of Electronic Publication: 2023 Dec 26.
Typ publikacji:: Journal Article
MeSH Terms:: Retinal Degeneration*/genetics
Nervous System Diseases*
Spasms, Infantile*
Genetic Diseases, X-Linked*
Infant ; Humans ; Male ; Child, Preschool ; Pedigree ; Blindness/genetics ; Blindness/diagnosis ; Mutation ; Eye Proteins/genetics ; Nerve Tissue Proteins/genetics
SCR Disease Name:: Norrie disease

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Skocz do pozycji: 16.

Tytuł:: Evaluation of Myocilin Variant Protein Structures Modeled by AlphaFold2.
Autorzy:: Ng TK; Joint Shantou International Eye Center of Shantou University and The Chinese University of Hong Kong, Shantou 515041, China.; Department of Ophthalmology and Visual Sciences, The Chinese University of Hong Kong, Hong Kong, China.
Ji J; Network & Information Centre, Shantou University, Shantou 515041, China.
Liu Q; Joint Shantou International Eye Center of Shantou University and The Chinese University of Hong Kong, Shantou 515041, China.; Key Laboratory of Carbohydrate and Lipid Metabolism Research, College of Life Science and Technology, Dalian University, Dalian 116622, China.
Yao Y; Joint Shantou International Eye Center of Shantou University and The Chinese University of Hong Kong, Shantou 515041, China.; Shantou University Medical College, Shantou 515041, China.
Wang WY; Joint Shantou International Eye Center of Shantou University and The Chinese University of Hong Kong, Shantou 515041, China.; Shantou University Medical College, Shantou 515041, China.
Cao Y; Joint Shantou International Eye Center of Shantou University and The Chinese University of Hong Kong, Shantou 515041, China.
Chen CB; Joint Shantou International Eye Center of Shantou University and The Chinese University of Hong Kong, Shantou 515041, China.
Lin JW; Joint Shantou International Eye Center of Shantou University and The Chinese University of Hong Kong, Shantou 515041, China.
Dong G; Shantou University Medical College, Shantou 515041, China.
Cen LP; Joint Shantou International Eye Center of Shantou University and The Chinese University of Hong Kong, Shantou 515041, China.
Huang C; Joint Shantou International Eye Center of Shantou University and The Chinese University of Hong Kong, Shantou 515041, China.
Zhang M; Joint Shantou International Eye Center of Shantou University and The Chinese University of Hong Kong, Shantou 515041, China.; Pokaż więcej
Źródło:: Biomolecules [Biomolecules] 2023 Dec 21; Vol. 14 (1). Date of Electronic Publication: 2023 Dec 21.
Typ publikacji:: Journal Article
MeSH Terms:: Eye Proteins*/genetics
Eye Proteins*/metabolism
Cytoskeletal Proteins*/metabolism
Glycoproteins*
Ligands ; Amino Acids

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Skocz do pozycji: 17.

Tytuł:: Pathogenic Variants in USH1G /SANS Alter Protein Interaction with Pre-RNA Processing Factors PRPF6 and PRPF31 of the Spliceosome.
Autorzy:: Fritze JS; Institute of Molecular Physiology, Johannes Gutenberg University Mainz, 55128 Mainz, Germany.
Stiehler FF; Institute of Molecular Physiology, Johannes Gutenberg University Mainz, 55128 Mainz, Germany.
Wolfrum U; Institute of Molecular Physiology, Johannes Gutenberg University Mainz, 55128 Mainz, Germany.; Pokaż więcej
Źródło:: International journal of molecular sciences [Int J Mol Sci] 2023 Dec 18; Vol. 24 (24). Date of Electronic Publication: 2023 Dec 18.
Typ publikacji:: Journal Article
MeSH Terms:: RNA Splicing Factors*/genetics
RNA Splicing Factors*/metabolism
Spliceosomes*/metabolism
Usher Syndromes*
Humans ; Eye Proteins/metabolism ; Nerve Tissue Proteins/metabolism ; Ribonucleoprotein, U4-U6 Small Nuclear/metabolism ; RNA Precursors/genetics ; RNA Splicing ; Transcription Factors/metabolism ; HEK293 Cells
SCR Disease Name:: Usher Syndrome, Type IG

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Skocz do pozycji: 18.

Tytuł:: Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseases.
Autorzy:: AlAbdi L; Department of Zoology, Collage of Science, King Saud University, Riyadh, Saudi Arabia.; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Shamseldin HE; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Khouj E; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Helaby R; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Aljamal B; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Alqahtani M; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Almulhim A; Department of Zoology, Collage of Science, King Saud University, Riyadh, Saudi Arabia.; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Hamid H; Department of Zoology, Collage of Science, King Saud University, Riyadh, Saudi Arabia.; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Hashem MO; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Abdulwahab F; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Abouyousef O; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Jaafar A; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Alshidi T; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Al-Owain M; Department of Medical Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Collage of Medicine, Alfaisal University, Riyadh, Saudi Arabia.
Alhashem A; Collage of Medicine, Alfaisal University, Riyadh, Saudi Arabia.; Pediatric Department, Division of Genetic and Metabolic Medicine, Prince Sultan Medical Military City, Riyadh, Saudi Arabia.
Al Tala S; Pediatric Department, Neonatal Unit, Armed Forces Hospital, Khamis Mushayt, Saudi Arabia.
Khan AO; Eye Institute, Cleveland Clinic Abu Dhabi, Abu Dhabi, United Arab Emirates.; Department of Ophthalmology, Cleveland Clinic Lerner College of Medicine of Case Western Reserve University, Cleveland, OH, USA.
Mardawi E; Maternal Fetal Medicine, Security Forces Hospital Program, Riyadh, Saudi Arabia.
Alkuraya H; Vitreoretinal Surgery and Ocular Genetics, Global Eye Care/Specialized Medical Center Hospital, Riyadh, Saudi Arabia.
Faqeih E; Section of Medical Genetics, King Fahad Medical City, Children's Specialist Hospital, Riyadh, Saudi Arabia.
Afqi M; Metabolic and Genetic Center, King Salman Bin Abdulaziz Medical City, Almadinah Almunwarah, Saudi Arabia.
Alkhalifi S; Newborn Screening, Ministry of Health, Eastern Province, Saudi Arabia.
Rahbeeni Z; Department of Medical Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Hagos ST; Department of Clinical Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Al-Ahmadi W; Department of Molecular Biomedicine, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
Nadeef S; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Maddirevula S; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Khabar KSA; Department of Molecular Biomedicine, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
Putra A; King Abdullah University of Science and Technology (KAUST), Core Labs, Thuwal, Saudi Arabia.
Angelov A; King Abdullah University of Science and Technology (KAUST), Core Labs, Thuwal, Saudi Arabia.
Park C; King Abdullah University of Science and Technology (KAUST), Core Labs, Thuwal, Saudi Arabia.
Reyes-Ramos AM; King Abdullah University of Science and Technology (KAUST), Core Labs, Thuwal, Saudi Arabia.
Umer H; King Abdullah University of Science and Technology (KAUST), Core Labs, Thuwal, Saudi Arabia.
Ullah I; King Abdullah University of Science and Technology (KAUST), Core Labs, Thuwal, Saudi Arabia.
Driguez P; King Abdullah University of Science and Technology (KAUST), Core Labs, Thuwal, Saudi Arabia.
Fukasawa Y; King Abdullah University of Science and Technology (KAUST), Core Labs, Thuwal, Saudi Arabia.
Cheung MS; King Abdullah University of Science and Technology (KAUST), Core Labs, Thuwal, Saudi Arabia.
Gallouzi IE; KAUST Smart-Health Initiative King Abdullah University of Science and Technology (KAUST), Thuwal, Saudi Arabia.; Engineering (BESE) Division, King Abdullah University of Science and Technology (KAUST), Thuwal, Saudi Arabia.
Alkuraya FS; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia. .; KAUST Smart-Health Initiative King Abdullah University of Science and Technology (KAUST), Thuwal, Saudi Arabia. .; Pokaż więcej
Źródło:: Genome medicine [Genome Med] 2023 Dec 14; Vol. 15 (1), pp. 114. Date of Electronic Publication: 2023 Dec 14.
Typ publikacji:: Journal Article
MeSH Terms:: Exome*
Inheritance Patterns*
Infant, Newborn ; Humans ; Genes, Recessive ; Mutation ; Exome Sequencing ; Pedigree ; Eye Proteins/genetics ; Membrane Proteins/genetics ; Nuclear Proteins/genetics ; Protein Serine-Threonine Kinases/genetics ; Intracellular Signaling Peptides and Proteins/genetics

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Skocz do pozycji: 19.

Tytuł:: Pigment epithelium-derived factor (PEDF) represses the glucose transporter 1 (GLUT1) mRNA expression and may be a potential therapeutic agent in psoriasis: a case-control and experimental study.
Autorzy:: Mohany KM; Medical Biochemistry and Molecular Biology Department, Faculty of Medicine, Assiut University, Assiut, 71515, Egypt. .
Elkady S; Medical Biochemistry and Molecular Biology Department, Faculty of Medicine, Assiut University, Assiut, 71515, Egypt.
Youssef EMK; Department of Dermatology, Venereology, and Andrology, Assiut University Hospital, Faculty of Medicine, Assiut University, Assiut, Egypt.
Sayed NM; Faculty of Medicine, Assiut University, Assiut, Egypt.
Idriss NK; Medical Biochemistry and Molecular Biology Department, Faculty of Medicine, Assiut University, Assiut, 71515, Egypt.; Pokaż więcej
Źródło:: Scientific reports [Sci Rep] 2023 Dec 05; Vol. 13 (1), pp. 21424. Date of Electronic Publication: 2023 Dec 05.
Typ publikacji:: Journal Article
MeSH Terms:: Psoriasis*/drug therapy
Psoriasis*/genetics
Serpins*/genetics
Serpins*/metabolism
Humans ; alpha-2-HS-Glycoprotein ; Case-Control Studies ; Eye Proteins/genetics ; Eye Proteins/metabolism ; Glucose Transporter Type 1/genetics ; Interleukin-6/genetics ; Interleukin-6/metabolism ; RNA, Messenger/genetics ; RNA, Messenger/metabolism

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Skocz do pozycji: 20.

Tytuł:: Expanding the allelic spectrum of ELOVL4-related autosomal recessive neuro-ichthyosis.
Autorzy:: Alabdulrazzaq F; Department of Pediatrics, Adan Hospital, Ministry of Health, Hadiya, Kuwait.; Kuwait Institute of Medical Specialization, Sulaibkikhat, Kuwait.
Alanzi T; Division Medical Genetics and Metabolic, Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.
Al-Balool HH; Kuwait Medical Genetics Centre, Ministry of Health, Sulaibikhat, Kuwait.
Gardham A; North West Thames Regional Genetics Service, Northwick Park Hospital, Harrow, UK.
Wakeling E; North East Thames Regional Genetics Service, Great Ormond Street Hospital, London, UK.
Leitch HG; North West Thames Regional Genetics Service, Northwick Park Hospital, Harrow, UK.; Medical Research Council, London Institute of Medical Sciences, London, UK.; Institute of Clinical Sciences, Faculty of Medicine, Imperial College London, London, UK.
AlSayed M; Department of Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Faculty of Medicine, Alfaisal University, Riyadh, Saudi Arabia.
Abdulrahim M; King Abdullah Bin Abdulaziz University Hospital, Princess Nourah Bint Abdulrahman University, Riyadh, Saudi Arabia.
Aladwani A; Kuwait Medical Genetics Centre, Ministry of Health, Sulaibikhat, Kuwait.
Romito A; CENTOGENE GmbH, Rostock, Germany.
Kampe K; CENTOGENE GmbH, Rostock, Germany.
Ferdinandusse S; Amsterdam UMC Location University of Amsterdam, Department of Clinical Chemistry and Pediatrics, Laboratory Genetic Metabolic Diseases, Emma Children's Hospital, Amsterdam, The Netherlands.; Amsterdam Gastroenterology Endocrinology Metabolism, Inborn Errors of Metabolism, Amsterdam, The Netherlands.
Aboelanine AH; Kuwait Medical Genetics Centre, Ministry of Health, Sulaibikhat, Kuwait.
Abdullah A; Department of Pediatrics, Adan Hospital, Ministry of Health, Hadiya, Kuwait.
Alwadani A; Kuwait Medical Genetics Centre, Ministry of Health, Sulaibikhat, Kuwait.
Bastaki L; Kuwait Medical Genetics Centre, Ministry of Health, Sulaibikhat, Kuwait.
Vaz FM; Amsterdam UMC Location University of Amsterdam, Department of Clinical Chemistry and Pediatrics, Laboratory Genetic Metabolic Diseases, Emma Children's Hospital, Amsterdam, The Netherlands.; Amsterdam Gastroenterology Endocrinology Metabolism, Inborn Errors of Metabolism, Amsterdam, The Netherlands.
Bertoli-Avella AM; CENTOGENE GmbH, Rostock, Germany.
Marafi D; Department of Pediatrics, Adan Hospital, Ministry of Health, Hadiya, Kuwait.; Kuwait Medical Genetics Centre, Ministry of Health, Sulaibikhat, Kuwait.; Department of Pediatrics, Faculty of Medicine, Kuwait University, Safat, Kuwait.; Pokaż więcej
Źródło:: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2023 Dec; Vol. 11 (12), pp. e2256. Date of Electronic Publication: 2023 Aug 18.
Typ publikacji:: Journal Article
MeSH Terms:: Macular Degeneration*/genetics
Ichthyosis*/genetics
Ichthyosis, Lamellar*
Humans ; Mutation ; Retina/metabolism ; Carbon ; Eye Proteins/genetics ; Membrane Proteins/genetics

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