Zobrazeno 1 - 10
of 1 226
pro vyhledávání: '"HGMD (human gene mutation database)"'
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
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
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
http://www.sciencedirect.com/science/article/pii/S221442692030135X
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
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
https://pubmed.ncbi.nlm.nih.gov/32637036
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)
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
http://europepmc.org/articles/PMC6815426
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
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
https://doi.org/10.1016/j.ymgmr.2015.06.002
Akademický článek
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Autor:
Kafol, Jan1 (AUTHOR), Gnidovec Strazisar, Barbara2,3 (AUTHOR), Drole Torkar, Ana1,4 (AUTHOR), Homan, Matjaz1,5 (AUTHOR), Bertok, Sara1,4 (AUTHOR), Mlinaric, Matej1,4 (AUTHOR), Sikonja, Jaka1,4 (AUTHOR), Kovač, Jernej1,6 (AUTHOR), Perkovic Benedik, Mirjana1,7 (AUTHOR), Kersnik Levart, Tanja1,8 (AUTHOR), Zerjav Tansek, Mojca1,4 (AUTHOR), Praprotnik, Marina1,9 (AUTHOR), Battelino, Tadej1,4 (AUTHOR), Debeljak, Maruša1,6 (AUTHOR), Groselj, Urh1,4 (AUTHOR) urh.groselj@gmail.com
Publikováno v:
Orphanet Journal of Rare Diseases. 12/30/2024, Vol. 19 Issue 1, p1-12. 12p.
Autor:
Lai, Shiue-Wei1,2,3 (AUTHOR), Chang, Chia-Yau3,4 (AUTHOR), Lee, Hwei-Jen5 (AUTHOR), Chen, Yeu-Chin1,2 (AUTHOR) yeuchin99@gmail.com
Publikováno v:
Thrombosis Journal. 12/3/2024, Vol. 22 Issue 1, p1-10. 10p.
Autor:
Sechko, Elena A.1 (AUTHOR) khusainova.rita@endocrincentr.ru, Koltakova, Maria P.1 (AUTHOR), Khusainova, Rita I.1 (AUTHOR), Minniakhmetov, Ildar R.1 (AUTHOR), Laptev, Dmitry N.1 (AUTHOR)
Publikováno v:
International Journal of Molecular Sciences. Nov2024, Vol. 25 Issue 22, p11998. 10p.
Autor:
Nagaraja, MR1 nagarajatanmayi@gmail.com, Gubbala, Satya Prakash2, Delphine Silvia, C. R. Wilma1, Amanchy, Ramars2
Publikováno v:
Systems Biology in Reproductive Medicine. Apr2019, Vol. 65 Issue 2, p105-120. 16p.