Cargando…

Next-generation sequencing-based molecular diagnosis of 12 inherited retinal disease probands of Uyghur ethnicity

Inherited retinal disease (IRD) is a category of genetic disorders affecting retina. Understanding the molecular basis of IRD is vital for clinical and genetic classification of patients. Uyghur people is an isolated ethnic group mainly residing in northwestern China with genetic admixture from Euro...

Descripción completa

Detalles Bibliográficos
Autores principales:	Tajiguli, Abulikemu, Xu, Mingchu, Fu, Qing, Yiming, Rouzimaimaiti, Wang, Keqing, Li, Yumei, Eblimit, Aiden, Sui, Ruifang, Chen, Rui, Aisa, Haji Akber
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group 2016
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4746660/ https://www.ncbi.nlm.nih.gov/pubmed/26856745 http://dx.doi.org/10.1038/srep21384

Ejemplares similares

Next-generation sequencing-based molecular diagnosis of 35 Hispanic retinitis pigmentosa probands
por: Zhang, Qi, et al.
Publicado: (2016)

Kaliziri extract upregulates tyrosinase, TRP-1, TRP-2 and MITF expression in murine B16 melanoma cells
por: Tuerxuntayi, Adila, et al.
Publicado: (2014)

Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients
por: Jiang, Lichun, et al.
Publicado: (2015)

Clinical and Genetic Features of Korean Inherited Arrhythmia Probands
por: Jeong, Joo Hee, et al.
Publicado: (2023)

The Effect of Volatile Oil from Vernonia anthelmintica Seeds on Melanin Synthesis in B16 Cells and Its Chemical Analysis by GC-QTOF-MS
por: Aobuli, Abulikemu, et al.
Publicado: (2018)

NGS-based Molecular diagnosis of 105 eyeGENE(®) probands with Retinitis Pigmentosa
por: Ge, Zhongqi, et al.
Publicado: (2015)

REEP6 deficiency leads to retinal degeneration through disruption of ER homeostasis and protein trafficking
por: Agrawal, Smriti A., et al.
Publicado: (2017)

Association between APOE polymorphism and metabolic syndrome in Uyghur ethnic men
por: Sun, YuPing, et al.
Publicado: (2016)

Epidemiological survey to determine the prevalence of cholecystolithiasis in Uyghur, Kazakh, and Han Ethnic Groups in the Xinjiang Uyghur Autonomous Region of China: cross-sectional studies
por: Lv, Fujun, et al.
Publicado: (2021)

Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands
por: Jin, Sheng Chih, et al.
Publicado: (2017)

Novel Furocoumarin Derivatives Stimulate Melanogenesis in B16 Melanoma Cells by Up-Regulation of MITF and TYR Family via Akt/GSK3β/β-Catenin Signaling Pathways
por: Niu, Chao, et al.
Publicado: (2018)

Anti-inflammatory effect of pomegranate flower in lipopolysaccharide (LPS)-stimulated RAW264.7 macrophages
por: Xu, Jianjun, et al.
Publicado: (2017)

Rapid Quantification and Quantitation of Alkaloids in Xinjiang Fritillaria by Ultra Performance Liquid Chromatography-Quadrupole Time-of-Flight Mass Spectrometry
por: Mohammat, Aziz, et al.
Publicado: (2017)

Amine derivatives of furocoumarin induce melanogenesis by activating Akt/GSK-3β/β-catenin signal pathway
por: Zang, Deng, et al.
Publicado: (2019)

Preparation of novel 1,2,3-triazole furocoumarin derivatives via click chemistry and their anti-vitiligo activity
por: Niu, Chao, et al.
Publicado: (2019)

Study of Novel Furocoumarin Derivatives on Anti-Vitiligo Activity, Molecular Docking and Mechanism of Action
por: Niu, Chao, et al.
Publicado: (2022)

Nanostructured N, S, and P-Doped Elaeagnus Angustifolia Gum-Derived Porous Carbon with Electrodeposited Silver for Enhanced Electrochemical Sensing of Acetaminophen
por: Mamat, Xamxikamar, et al.
Publicado: (2023)

Targeted Next-Generation Sequencing in Uyghur Families with Non-Syndromic Sensorineural Hearing Loss
por: Chen, Ying, et al.
Publicado: (2015)

Distribution and Determinants of Non Communicable Diseases among Elderly Uyghur Ethnic Group in Xinjiang, China
por: Feng, Lei, et al.
Publicado: (2014)

A Demographic Analysis of Hearing Impairments among People of Uyghur and Han Ethnicity in Xinjiang, China
por: Wang, Le, et al.
Publicado: (2022)

Chemical and Pharmacological Evaluation of Hulls of Prunus dulcis Nuts
por: Qureshi, Muhammad Nasimullah, et al.
Publicado: (2019)

Chemical constituents and their pharmacological activities of plants from Cichorium genus
por: Aisa, Haji Akber, et al.
Publicado: (2020)

Development of HPLC Protocol and Simultaneous Quantification of Four Free Flavonoids from Dracocephalum heterophyllum Benth.
por: Numonov, Sodik Rakhmonovich, et al.
Publicado: (2015)

Preparation of Magnetic Nanoliposomes of Sesquiterpene-Rich Fraction from Cichorium glandulosum and Its Tissue Distribution in Mice
por: Luo, Yuqin, et al.
Publicado: (2018)

Investigating the Antioxidant and Acetylcholinesterase Inhibition Activities of Gossypium herbaceam
por: Zhao, Yongxin, et al.
Publicado: (2013)

Chemical Composition, Antimicrobial and Antitumor Activities of the Essential Oils and Crude Extracts of Euphorbia macrorrhiza
por: Lin, Jianbo, et al.
Publicado: (2012)

Luteolin induces apoptosis in vitro through suppressing the MAPK and PI3K signaling pathways in gastric cancer
por: Lu, Xueying, et al.
Publicado: (2017)

A Novel Furocoumarin Derivative, 5-((diethylamino)me-13 thyl)-3-phenyl-7H-furo [3,2-g] chromen-7-one Upregulates Melanin Synthesis via the Activation of cAMP/PKA and MAPKs Signal Pathway: In Vitro and In Vivo Study
por: Zang, Deng, et al.
Publicado: (2022)

Comprehensive Study of Components and Antimicrobial Properties of Essential Oil Extracted from Carum carvi L. Seeds
por: Liu, Changhai, et al.
Publicado: (2023)

Overweight in family members of probands with ADHD
por: Geuijen, Pauline M., et al.
Publicado: (2019)

Potential anti-vitiligo properties of cynarine extracted from Vernonia anthelmintica (L.) Willd
por: Mamat, Nuramina, et al.
Publicado: (2018)

Kursi Wufarikun Ziyabit Improves the Physiological Changes by Regulating Endoplasmic Reticulum Stress in the Type 2 Diabetes db/db Mice
por: Edirs, Salamet, et al.
Publicado: (2021)

Integrative subcellular proteomic analysis allows accurate prediction of human disease-causing genes
por: Zhao, Li, et al.
Publicado: (2016)

IFT81 as a Candidate Gene for Nonsyndromic Retinal Degeneration
por: Dharmat, Rachayata, et al.
Publicado: (2017)

Song Bu Li Decoction, a Traditional Uyghur Medicine, Protects Cell Death by Regulation of Oxidative Stress and Differentiation in Cultured PC12 Cells
por: Maiwulanjiang, Maitinuer, et al.
Publicado: (2013)

Next-Generation Sequencing Applications for Inherited Retinal Diseases
por: Dockery, Adrian, et al.
Publicado: (2021)

Genomic diversity and post-admixture adaptation in the Uyghurs
por: Pan, Yuwen, et al.
Publicado: (2021)

Noncoding mutation in RPGRIP1 contributes to inherited retinal degenerations
por: Zou, Gang, et al.
Publicado: (2021)

Genetic mutations in non-syndromic deafness patients of uyghur and han chinese ethnicities in xinjiang, China: a comparative study
por: Chen, Yu, et al.
Publicado: (2011)

(5R,8R)-2-(3,8-Dimethyl-2-oxo-1,2,4,5,6,7,8,8a-octahydroazulen-5-yl)acrylic acid (rupestonic acid)
por: Aisa, Haji Akber, et al.
Publicado: (2008)

Cannot write session to /tmp/vufind_sessions/sess_o35cqhivhuc7bu06k11r9dni6i