المؤلفون: Lei Wu, Juan Zhang, Danjie Li, Zhongyun Zhang, Qicheng Ni, Rulai Han, Lei Ye, Yifei Zhang, Jie Hong, Weiqing Wang, Guang Ning, Weiqiong Gu

المصدر: Frontiers in Genetics, Vol 15 (2024)

مصطلحات موضوعية: WFS1 gene, Wolfram syndrome-like disorders (WSLD), ACMG classification, functional analysis, whole-exome sequencing (WES), Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2024.1433060/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/ce5c793a14e54f4d9c3dc7a832237736

المؤلفون: Valerio Caruso, Luciana Rigoli

المصدر: Biomolecules, Vol 14, Iss 11, p 1389 (2024)

مصطلحات موضوعية: WFS1 gene, Wolfram syndrome 1, Alzheimer’s disease, neuropsychiatric disorders, Microbiology, QR1-502

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2218-273X/14/11/1389; https://doaj.org/toc/2218-273X

URL الوصول: https://doaj.org/article/b2317c82db3840fa9e92ead7d50afc71

المؤلفون: Zi-Jie Chen, Yu-Kai Mao, Ning Fan, Yan-Fen Hong, Xu-Yang Liu

المصدر: Guoji Yanke Zazhi, Vol 23, Iss 11, Pp 1930-1934 (2023)

مصطلحات موضوعية: wolfram syndrome, wfs1 gene, genetic analysis, mutation, Ophthalmology, RE1-994

وصف الملف: electronic resource

Relation: http://ies.ijo.cn/cn_publish/2023/11/202311032.pdf; https://doaj.org/toc/1672-5123

URL الوصول: https://doaj.org/article/b63f8a17a25c4e1a8397e8459297e5f9

المؤلفون: Danyang Du, Aihemaitijiang Tuhuti, Yanrong Ma, Munila Abuduniyimu, Suli Li, Guoying Ma, Jazyra Zynat, Yanying Guo

المصدر: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-8 (2023)

مصطلحات موضوعية: Wolfram syndrome, WFS1 gene, Diabetic mellitus, Genetic testing, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/409f2af6c2624686b6e701cc8648f312

المؤلفون: Maryem Sahli, Abdelali Zrhidri, Imad Boualaoui, Imane Cherkaoui Jaouad, Youssef El Kadiri, Yassine Nouini, Abdelaziz Sefiani

المصدر: Journal of Medical Case Reports, Vol 17, Iss 1, Pp 1-5 (2023)

مصطلحات موضوعية: Wolfram syndrome, Next-generation sequencing, WFS1 gene, Moroccan family, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1752-1947

URL الوصول: https://doaj.org/article/cd5ca4b1105145bfab11db6f3f87770a

المؤلفون: Yuan Chen, Miao Zhang, Yuying Zhou, Pan Li

المصدر: Frontiers in Genetics, Vol 14 (2023)

مصطلحات موضوعية: WFS1 gene mutation, wolframin protein, cognitive impairment (CI), ischemic cerebral infarction, neurodegeneration, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2023.1072978/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/483e974f7a9b42bc9f5230f72a043545

المؤلفون: Sulev Kõks

المصدر: Biomolecules ; Volume 13 ; Issue 9 ; Pages: 1346

مصطلحات موضوعية: Wolfram syndrome, WFS1 gene, wolframin protein, genomics, functional genomics

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Molecular Genetics; https://dx.doi.org/10.3390/biom13091346

الاتاحة: https://doi.org/10.3390/biom13091346

المؤلفون: Mehraban Mirrahimi, Sare Safi, Maryam Mohammadzadeh, Azadeh Doozandeh, Fatemeh Suri

المصدر: Journal of Ophthalmic & Vision Research, Vol 16, Iss 4, Pp 602-610 (2021)

مصطلحات موضوعية: variable clinical manifestations, wfs1 gene, wolfram syndrome, Ophthalmology, RE1-994

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2008-2010; https://doaj.org/toc/2008-322X

URL الوصول: https://doaj.org/article/c6e33f8814c74ab7802c31e7383e0242

المؤلفون: Laura Alías, Miguel López de Heredia, Sabina Luna, Núria Clivillé, Lídia González-Quereda, Pía Gallano, Júlia de Juan, Albert Pujol, Santiago Diez, Susana Boronat, César Orús, Adriana Lasa, María del Prado Venegas

المصدر: Frontiers in Genetics, Vol 13 (2022)

مصطلحات موضوعية: WFS1 gene, congenital hearing loss, NGS, Wolfram-like syndrome, optic atrophy, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2022.998898/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/07967e7b974044478f2e4457b6a25004

المؤلفون: Yingying Gong, Li Xiong, Xiujun Li, Lei Su, Haipeng Xiao

المصدر: BMC Endocrine Disorders, Vol 21, Iss 1, Pp 1-13 (2021)

مصطلحات موضوعية: Wolfram syndrome, WFS1 gene, Mutation, ER stress, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1472-6823

URL الوصول: https://doaj.org/article/cd37c43ec863453fb18c27059558f0d1

المؤلفون: Sarah A. Eisenstein, Raveena S. Boodram, Courtney L. Sutphen, Heather M. Lugar, Brian A. Gordon, Bess A. Marshall, Fumihiko Urano, Anne M. Fagan, Tamara Hershey

المصدر: Frontiers in Neuroscience, Vol 16 (2022)

مصطلحات موضوعية: Wolfram syndrome, neurofilament light chain, neurodegeneration, axonal injury, thalamus, WFS1 gene, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fnins.2022.795317/full; https://doaj.org/toc/1662-453X

URL الوصول: https://doaj.org/article/463b40b8474c45639d3e1a1833e7082c

المؤلفون: Majander, Anna, Jurkute, Neringa, Burte, Florence, Brock, Kristain, Joao, Catarina, Huang, Houbin, Neveu, Magella m., Chan, Choi mun, Duncan, Holly j., Kelly, Simon, Burkitt-Wright, Emma, Khoyratty, Fadil, Lai, Yoon tse, Subash, Mala, Chinnery, Patrick f., Bitner-Glindzicz, Maria, Arno, Gavin, Webster, Andrew r., Moore, Anthony t., Michaelides, Michel, Stockman, Andrew, Robson, Anthony g., Yu-Wai-Man, Patrick

المساهمون: HUS Head and Neck Center, Clinicum, Silmäklinikka

مصطلحات موضوعية: Otorhinolaryngology, ophthalmology, Visual-evoked potentials, Wolfram-syndrome, Wfs1 gene, Missense mutation, Iscev standard, Atrophy, Pattern, Neurodegeneration, Identification, Expression

وصف الملف: application/pdf

Relation: This research was supported by the National Institute for Health Research Rare Diseases Translational Research Collaboration (NIHR RD-TRC), the National Institute for Health Research Biomedical Research Centre at Moorfields Eye Hospital NHS Foundation Trust and UCL Institute of Ophthalmology, and the NIHR Moorfields Clinical Research Facility. The views expressed are those of the author(s) and not necessarily those of the NHS, the NIHR or the Department of Health.; Majander , A , Jurkute , N , Burte , F , Brock , K , Joao , C , Huang , H , Neveu , M M , Chan , C M , Duncan , H J , Kelly , S , Burkitt-Wright , E , Khoyratty , F , Lai , Y T , Subash , M , Chinnery , P F , Bitner-Glindzicz , M , Arno , G , Webster , A R , Moore , A T , Michaelides , M , Stockman , A , Robson , A G & Yu-Wai-Man , P 2022 , ' WFS1-Associated Optic Neuropathy : Genotype-Phenotype Correlations and Disease Progression ' , American Journal of Ophthalmology , vol. 241 , pp. 9-27 . https://doi.org/10.1016/j.ajo.2022.04.003; http://hdl.handle.net/10138/346328; 2f0a9415-ac52-4e0c-b15e-5801c2815c0f; 000808377200002

الاتاحة: http://hdl.handle.net/10138/346328

المؤلفون: Alías, Laura, López de Heredia, Miguel, Luna Mariné, Sabina, Clivillé, Núria, Gonzalez-Quereda, L, Gallano, Pia, de Juan, Julia, Pujol-Olmo, Albert, Diez, Santiago, Boronat, Susanna, Orús Dotú, César, Lasa, Adriana, Venegas, María del Prado

مصطلحات موضوعية: WFS1 gene, Congenital hearing loss, NGS, Wolfram-like syndrome, Optic atrophy

وصف الملف: application/pdf

Relation: Frontiers in genetics; Vol. 13 (october 2022), p. 998898; https://ddd.uab.cat/record/275160; urn:10.3389/fgene.2022.998898; urn:oai:ddd.uab.cat:275160; urn:scopus_id:85140959599; urn:articleid:16648021v13p998898; urn:pmid:36330437; urn:pmc-uid:9623256; urn:pmcid:PMC9623256; urn:oai:pubmedcentral.nih.gov:9623256; urn:oai:egreta.uab.cat:publications/6fe657f8-6582-4daa-abf2-5ddfe9eae3b2

الاتاحة: https://ddd.uab.cat/record/275160

المؤلفون: Li, Siying, Li, Xiaoxin, Qu, Jinfeng

المصدر: Eur J Ophthalmol ; ISSN:1724-6016 ; Volume:34 ; Issue:4

مصطلحات موضوعية: WFS1 gene, optic atrophy, sensorineural hearing loss, wolfram-like syndrome

Relation: https://doi.org/10.1177/11206721241237552; https://pubmed.ncbi.nlm.nih.gov/38470317

الاتاحة: https://doi.org/10.1177/11206721241237552
https://pubmed.ncbi.nlm.nih.gov/38470317

المؤلفون: Yingying Gong (10677302), Li Xiong (694078), Xiujun Li (418603), Lei Su (361548), Haipeng Xiao (10677305)

مصطلحات موضوعية: Genetics, Wolfram syndrome, WFS1 gene, Mutation, ER stress

Relation: https://figshare.com/articles/journal_contribution/Additional_file_1_of_A_novel_mutation_of_WFS1_gene_leading_to_increase_ER_stress_and_cell_apoptosis_is_associated_an_autosomal_dominant_form_of_Wolfram_syndrome_type_1/14456837

الاتاحة: https://doi.org/10.6084/m9.figshare.14456837.v1

المؤلفون: Yingying Gong (10677302), Li Xiong (694078), Xiujun Li (418603), Lei Su (361548), Haipeng Xiao (10677305)

مصطلحات موضوعية: Genetics, Wolfram syndrome, WFS1 gene, Mutation, ER stress

Relation: https://figshare.com/articles/journal_contribution/Additional_file_3_of_A_novel_mutation_of_WFS1_gene_leading_to_increase_ER_stress_and_cell_apoptosis_is_associated_an_autosomal_dominant_form_of_Wolfram_syndrome_type_1/14456843

الاتاحة: https://doi.org/10.6084/m9.figshare.14456843.v1

المؤلفون: Yingying Gong (10677302), Li Xiong (694078), Xiujun Li (418603), Lei Su (361548), Haipeng Xiao (10677305)

مصطلحات موضوعية: Genetics, Wolfram syndrome, WFS1 gene, Mutation, ER stress

Relation: https://figshare.com/articles/journal_contribution/Additional_file_4_of_A_novel_mutation_of_WFS1_gene_leading_to_increase_ER_stress_and_cell_apoptosis_is_associated_an_autosomal_dominant_form_of_Wolfram_syndrome_type_1/14456846

الاتاحة: https://doi.org/10.6084/m9.figshare.14456846.v1

المؤلفون: Yingying Gong (10677302), Li Xiong (694078), Xiujun Li (418603), Lei Su (361548), Haipeng Xiao (10677305)

مصطلحات موضوعية: Genetics, Wolfram syndrome, WFS1 gene, Mutation, ER stress

Relation: https://figshare.com/articles/journal_contribution/Additional_file_2_of_A_novel_mutation_of_WFS1_gene_leading_to_increase_ER_stress_and_cell_apoptosis_is_associated_an_autosomal_dominant_form_of_Wolfram_syndrome_type_1/14456840

الاتاحة: https://doi.org/10.6084/m9.figshare.14456840.v1

المؤلفون: Mirrahimi, M. (Mehraban), Safi, S. (Sare), Mohammadzadeh, M. (Maryam), Doozandeh, A. (Azadeh), Suri, F. (Fatemeh)

المصدر: Journal of Ophthalmic and Vision Research

مصطلحات موضوعية: Variable Clinical Manifestations, WFS1 Gene, Wolfram Syndrome, Indonesia

وصف الملف: application/pdf

Relation: https://www.neliti.com/publications/442205/variable-expressivity-of-wolfram-syndrome-in-a-family-with-multiple-affected-sub

الاتاحة: https://www.neliti.com/publications/442205/variable-expressivity-of-wolfram-syndrome-in-a-family-with-multiple-affected-sub

المؤلفون: Scott, Briana, Lee, Alyandra

المصدر: Fall Showcase for Research and Creative Inquiry

مصطلحات موضوعية: Wfs1, Wfs1 gene, calcium regulation, endoplasmic reticulum, ER, Drosophila cells, cells, Biology

وصف الملف: application/pdf

Relation: https://digitalcommons.longwood.edu/rci_fall/21; https://digitalcommons.longwood.edu/cgi/viewcontent.cgi?article=1021&context=rci_fall

الاتاحة: https://digitalcommons.longwood.edu/rci_fall/21
https://digitalcommons.longwood.edu/cgi/viewcontent.cgi?article=1021&context=rci_fall