Výsledky vyhledávání - "HGMD (human gene mutation database)"

Akademický článek

Decoding of novel missense TSC2 gene variants using in-silico methods

Autor: Shruthi Sudarshan, Manoj Kumar, Punit Kaur, Atin Kumar, Sethuraman G., Savita Sapra, Sheffali Gulati, Neerja Gupta, Madhulika Kabra, Madhumita Roy Chowdhury

Publikováno v: BMC Medical Genetics, Vol 20, Iss 1, Pp 1-9 (2019)

Abstract Background Mutations in TSC1 or TSC2 gene cause tuberous sclerosis complex (TSC), an autosomal dominant disorder characterized by the formation of non-malignant hamartomas in multiple vital organs. TSC1 and TSC2 gene products form TSC hetero

Externí odkaz: https://doaj.org/article/5ebd69bf72a54b7ba23669d521fdf941

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High frequency of biotinidase deficiency in Italian population identified by newborn screening

Autor: Giancarlo la Marca, Silvia Funghini, Anna Caciotti, Rodolfo Tonin, Amelia Morrone, Sabrina Malvagia, Maria Alice Donati

Publikováno v: Molecular Genetics and Metabolism Reports, Vol 25, Iss, Pp 100689-(2020)
Molecular Genetics and Metabolism Reports

The biotinidase (BTD) enzyme is essential for recycling biotin, a water-soluble B-complex vitamin that is the coenzyme of four carboxylases involved in fatty acid synthesis, amino acid catabolism and gluconeogenesis. If untreated, total or partial BT

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c72a5eb08dfbfc60161e617850d50ffb
http://www.sciencedirect.com/science/article/pii/S221442692030135X

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Structural modeling, mutation analysis, and

Autor: Dongmei, Yu, Junhuang, Zou, Qian, Chen, Tian, Zhu, Ruifang, Sui, Jun, Yang

Publikováno v: Computational and Structural Biotechnology Journal

Graphical abstract
Usherin is the most common causative protein associated with autosomal recessive retinitis pigmentosa (RP) and Usher syndrome (USH), which are characterized by retinal degeneration alone and in combination with hearing loss, r

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::35148b337b6fe4f434abb0702c3bbb9e
https://pubmed.ncbi.nlm.nih.gov/32637036

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Decoding of novel missense TSC2 gene variants using in-silico methods

Autor: Atin Kumar, Punit Kaur, Madhumita Roy Chowdhury, Shruthi Sudarshan, G Sethuraman, Savita Sapra, Sheffali Gulati, Neerja Gupta, Manoj Kumar, Madhulika Kabra

Publikováno v: BMC Medical Genetics
BMC Medical Genetics, Vol 20, Iss 1, Pp 1-9 (2019)

Background Mutations in TSC1 or TSC2 gene cause tuberous sclerosis complex (TSC), an autosomal dominant disorder characterized by the formation of non-malignant hamartomas in multiple vital organs. TSC1 and TSC2 gene products form TSC heterodimer tha

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e7e68d58533b97de00deafa06edccc9
http://europepmc.org/articles/PMC6815426

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Mutations in ARSB in MPS VI patients in India

Autor: S. Udhaya Kumar, Saravanamuthu Thiyagarajan, Meenakshi Bhat, Juby Mathew, Sudha Srinivasan, Sujatha Jagadeesh

Publikováno v: Molecular Genetics and Metabolism Reports, Vol 4, Iss C, Pp 53-61 (2015)
Molecular Genetics and Metabolism Reports

Mucopolysaccharidosis VI (MPS VI) is an autosomal recessive inborn error of metabolism caused by mutations in the arylsulfatase B gene (ARSB) and consequent deficient activity of ARSB, a lysosomal enzyme. We present here the results of a study undert

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9a7118e015b695c28fc964a97d7300e6
https://doi.org/10.1016/j.ymgmr.2015.06.002

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Akademický článek

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Towards a New Diagnostic Standard for Niemann–Pick C Disease

Autor: Daniel S. Ory, Xuntian Jiang

Publikováno v: EBioMedicine
EBioMedicine, Vol 4, Iss C, Pp 18-19 (2016)

Niemann Pick type C (NP-C) is a rare neurodegenerative disorder caused by an impairment of intracellular lipid transport. Due to the heterogeneous clinical phenotype and the lack of a reliable blood test, diagnosis and therapy are often delayed for y

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c4e024eb37ef1be9db7b645ddaedc0d0
http://europepmc.org/articles/PMC4776064

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Report

Pathogenic variants of the GNAS gene introduce an abnormal amino acid sequence in the β6 strand/α5 helix of Gsα, causing pseudohypoparathyroidism type 1A and pseudopseudohypoparathyroidism in two unrelated Japanese families.

Autor: Ohata Y; Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Japan., Kakimoto H; Department of Pediatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan., Seki Y; Department of Pediatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan., Ishihara Y; Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Japan.; The first Department of Oral and Maxillofacial Surgery, Osaka University Graduate School of Dentistry, Suita, Japan.; Department of Cardiovascular Medicine, Osaka University Graduate School of Medicine, Suita, Japan., Nakano Y; Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Japan., Yamamoto K; Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Japan.; Department of Statistical Genetics, Osaka University Graduate School of Medicine, Suita, Japan., Takeyari S; Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Japan., Fujiwara M; Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Japan.; The first Department of Oral and Maxillofacial Surgery, Osaka University Graduate School of Dentistry, Suita, Japan., Kitaoka T; Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Japan., Takakuwa S; Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Japan.; Department of Pediatrics, Hyogo Prefectural Nishinomiya Hospital, Japan., Kubota T; Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Japan., Ozono K; Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Japan.

Publikováno v: Bone reports [Bone Rep] 2022 Nov 10; Vol. 17, pp. 101637. Date of Electronic Publication: 2022 Nov 10 (Print Publication: 2022).

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Akademický článek

High frequency of biotinidase deficiency in Italian population identified by newborn screening.

Autor: Funghini S; Newborn Screening, Biochemical & Pharmacology Lab, Clinic of Paediatric Neurology, A. Meyer Children's Hospital, Firenze, Italy., Tonin R; Molecular and Cell Biology Laboratory, Paediatric Neurology Unit and Laboratories, Neuroscience Department, Meyer Children's Hospital, Firenze, Italy., Malvagia S; Newborn Screening, Biochemical & Pharmacology Lab, Clinic of Paediatric Neurology, A. Meyer Children's Hospital, Firenze, Italy., Caciotti A; Molecular and Cell Biology Laboratory, Paediatric Neurology Unit and Laboratories, Neuroscience Department, Meyer Children's Hospital, Firenze, Italy., Donati MA; Metabolic and Muscular Unit, Meyer Childrens' Hospital, Firenze, Italy., Morrone A; Molecular and Cell Biology Laboratory, Paediatric Neurology Unit and Laboratories, Neuroscience Department, Meyer Children's Hospital, Firenze, Italy.; Department of Neurosciences, Psychology, Pharmacology and Child Health, University of Florence, Italy., la Marca G; Newborn Screening, Biochemical & Pharmacology Lab, Clinic of Paediatric Neurology, A. Meyer Children's Hospital, Firenze, Italy.; Department of Experimental Clinical and Biomedical Sciences, University of Florence, Firenze, Italy.

Publikováno v: Molecular genetics and metabolism reports [Mol Genet Metab Rep] 2020 Dec 05; Vol. 25, pp. 100689. Date of Electronic Publication: 2020 Dec 05 (Print Publication: 2020).

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Akademický článek

Structural modeling, mutation analysis, and in vitro expression of usherin, a major protein in inherited retinal degeneration and hearing loss.

Autor: Yu D; Department of Ophthalmology and Visual Sciences, Moran Eye Center, University of Utah, Salt Lake City, UT, United States., Zou J; Department of Ophthalmology and Visual Sciences, Moran Eye Center, University of Utah, Salt Lake City, UT, United States., Chen Q; Department of Ophthalmology and Visual Sciences, Moran Eye Center, University of Utah, Salt Lake City, UT, United States., Zhu T; Department of Ophthalmology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing, China., Sui R; Department of Ophthalmology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing, China., Yang J; Department of Ophthalmology and Visual Sciences, Moran Eye Center, University of Utah, Salt Lake City, UT, United States.; Department of Neurobiology and Anatomy, University of Utah, Salt Lake City, UT, United States.; Division of Otolaryngology, Department of Surgery, University of Utah, Salt Lake City, UT, United States.

Publikováno v: Computational and structural biotechnology journal [Comput Struct Biotechnol J] 2020 Jun 10; Vol. 18, pp. 1363-1382. Date of Electronic Publication: 2020 Jun 10 (Print Publication: 2020).

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