Wilson's disease: A new perspective review on its genetics, diagnosis and treatment.


Journal

Frontiers in bioscience (Elite edition)
ISSN: 1945-0508
Titre abrégé: Front Biosci (Elite Ed)
Pays: Singapore
ID NLM: 101485240

Informations de publication

Date de publication:
01 06 2019
Historique:
entrez: 29 5 2019
pubmed: 29 5 2019
medline: 27 5 2020
Statut: epublish

Résumé

Wilson's disease (WD) is an autosomal recessive disorder which is caused by poor excretion of copper in mammalian cells. In this review, various issues such as effective characterization of ATP7B genes, scope of gene network topology in genetic analysis, pattern recognition using different computing approaches and fusion possibilities in imaging and genetic dataset are discussed vividly. We categorized this study into three major sections: (A) WD genetics, (B) diagnosis guidelines and (3) treatment possibilities. We addressed the scope of advanced mathematical modelling paradigms for understanding common genetic sequences and dominating WD imaging biomarkers. We have also discussed current state-of-the-art software models for genetic sequencing. Further, we hypothesized that involvement of machine and deep learning techniques in the context of WD genetics and image processing for precise classification of WD. These computing procedures signify changing roles of various data transformation techniques with respect to supervised and unsupervised learning models.

Identifiants

pubmed: 31136971
pii: 854
doi: 10.2741/E854

Substances chimiques

ATP7B protein, human EC 7.2.2.8
Copper-Transporting ATPases EC 7.2.2.8

Types de publication

Journal Article Review

Langues

eng

Sous-ensembles de citation

IM

Pagination

166-185

Auteurs

Luca Saba (L)

Department of Radiology, Azienda Ospedaliero Universitaria, Cagliari, Italy.

Anurag Tiwari (A)

Department of Computer Science and Engineering, Indian Institute of Technology (BHU), Varanasi, India.

Mainak Biswas (M)

Department of Computer Science Engineering, NIT Goa, India.

Suneet Kumar Gupta (SK)

Department of Computer Science Engineering, Bennett University, India.

Elisa Godia-Cuadrado (E)

Dept. of Neurology, IMIM - Hospital del Mar, Passeig Marítim 25-29, Barcelona, Spain.

Amrita Chaturvedi (A)

Department of Computer Science and Engineering, IIT, Varanasi, India.

Monika Turk (M)

Department of Neurology, University Medical Centre Maribor, Slovenia.

Harman S Suri (HS)

Department of Neuroscience, Brown University, Providence, USA.

Sandro Orru (S)

Department of Medical Sciences, University of Cagliari, Italy.

J Miguel Sanches (JM)

Institute of Systems and Robotics (ISR), Instituto Superior Tecnico (IST), Lisboa, Portugal.

Carlo Carcassi (C)

Department of Medical Sciences, University of Cagliari, Italy.

Rui Tato Marinho (RT)

Medical School of Lisbon, Lisbon University, Portugal.

Christopher Kwaku Asare (CK)

Department of Neurosurgery, Greater Accra Regional Hospital, Ridge, Accra, Ghana.

Narendra N Khanna (NN)

Apollo Hospitals, New Delhi, India.

Madhusudhan B K (M)

Neuro and Epileptology, BGS Global Hospitals, Bangaluru, India.

Jasjit S Suri (JS)

Neurological Research Division, AtheroPoint™, Roseville, CA, USA, jsuri@comcast.in.

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Classifications MeSH