Zobrazeno 1 - 10
of 30
pro vyhledávání: '"Alvin Santoso Kalim"'
Publikováno v:
BMC Pediatrics, Vol 22, Iss 1, Pp 1-5 (2022)
Abstract Background Hirschsprung disease (HSCR) is a complex genetic disorder characterized by the lack of ganglion cells in the intestines. A current study showed that the NRG1 rare variant frequency in Indonesian patients with HSCR is only 0.9%. He
Externí odkaz:
https://doaj.org/article/e67640405d004155a18252b8537adabc
Autor:
Gunadi, Hendra Wibawa, Mohamad Saifudin Hakim, Marcellus, Ika Trisnawati, Riat El Khair, Rina Triasih, Irene, Afiahayati, Kristy Iskandar, Siswanto, Nungki Anggorowati, Edwin Widyanto Daniwijaya, Endah Supriyati, Dwi Aris Agung Nugrahaningsih, Eko Budiono, Heni Retnowulan, Yunika Puspadewi, Ira Puspitawati, Osman Sianipar, Dwiki Afandy, Susan Simanjaya, William Widitjiarso, Dyah Ayu Puspitarani, Fadil Fahri, Untung Riawan, Aditya Rifqi Fauzi, Alvin Santoso Kalim, Nur Rahmi Ananda, Amalia Setyati, Dwikisworo Setyowireni, Ida Safitri Laksanawati, Eggi Arguni, Titik Nuryastuti, Tri Wibawa, the Yogyakarta-Central Java COVID-19 study group
Publikováno v:
BMC Medical Genomics, Vol 14, Iss 1, Pp 1-14 (2021)
Abstract Background Transmission within families and multiple spike protein mutations have been associated with the rapid transmission of SARS-CoV-2. We aimed to: (1) describe full genome characterization of SARS-CoV-2 and correlate the sequences wit
Externí odkaz:
https://doaj.org/article/72ef4d08509c480781865376786611c6
Is There Any Mosaicism in REarranged During Transfection Variant in Hirschsprung Disease’s Patients?
Autor:
Kristy Iskandar, Susan Simanjaya, Taufik Indrawan, Alvin Santoso Kalim, Marcellus, Didik Setyo Heriyanto, Gunadi
Publikováno v:
Frontiers in Pediatrics, Vol 10 (2022)
BackgroundHirschsprung disease (HSCR) is a heterogeneous genetic disease characterized by the absence of ganglion cells in the intestinal tract. The REarranged during Transfection (RET) is the most responsible gene for its pathogenesis. RET’s somat
Externí odkaz:
https://doaj.org/article/0742ebd6576a460eb615e00dac40994a
Autor:
Gunadi, Alvin Santoso Kalim, Estelita Liana, Aditya Rifqi Fauzi, Dian Nirmala Sirait, Dwiki Afandy, Sagita Mega Sekar Kencana, Eko Purnomo, Kristy Iskandar, Akhmad Makhmudi
Publikováno v:
BMC Pediatrics, Vol 19, Iss 1, Pp 1-5 (2019)
Abstract Background Recently, pathogenic alleles within ubiquitin N-recognin domain-containing E3 ligase 4 (UBR4) gene have been shown to be associated with Hirschsprung disease (HSCR). We determined the UBR4 expressions in Indonesian HSCR patients.
Externí odkaz:
https://doaj.org/article/2d45e3933d214c868c01319f0a9ed448
Autor:
Kristy Iskandar, Sunartini, Andika Priamas Nugrahanto, Nissya Ilma, Alvin Santoso Kalim, Guritno Adistyawan, Siswanto, Roni Naning
Publikováno v:
BMC Proceedings, Vol 13, Iss S11, Pp 1-7 (2019)
Abstract Background Duchenne Muscular Dystrophy (DMD) is a fatal X-linked recessive neuromuscular disease, characterized by progressive loss of muscle strength. Respiratory failure is the main cause of morbidity and mortality in DMD patients. Respira
Externí odkaz:
https://doaj.org/article/421adff19c5e4af399f86c6b5b5107aa
Autor:
Gunadi, Naisya Balela, Alvin Santoso Kalim, William Widitjiarso, Fadil Fahri, Audric Kenny Tedja, Eko Purnomo, Andi Dwihantoro, Nunik Agustriani, Akhmad Makhmudi
Publikováno v:
Heliyon, Vol 7, Iss 6, Pp e07199- (2021)
Background: The residency program as a part of the clinical services itself has been influenced by the COVID-19 outbreak. Several reports have been published regarding the impact of COVID-19 on the residency programs; however, all studies were perfor
Externí odkaz:
https://doaj.org/article/eb07db1fc3d440f49a512805ab412607
Autor:
Kristy Iskandar, Ery Kus Dwianingsih, Linda Pratiwi, Alvin Santoso Kalim, Hasna Mardhiah, Alifiani H. Putranti, Dian K. Nurputra, Agung Triono, Elisabeth S. Herini, Rusdy G. Malueka, Gunadi, Poh San Lai, Sunartini
Publikováno v:
BMC Research Notes, Vol 12, Iss 1, Pp 1-6 (2019)
Abstract Objective Duchenne/Becker muscular dystrophy (DMD/BMD) is the most common genetic neuromuscular disease in children, resulting from a defect in the DMD gene located on Xp21.2. The new emerging treatment using exon skipping strategy is tailor
Externí odkaz:
https://doaj.org/article/546746b927424d95a2737bb426870e83
Publikováno v:
BMC Research Notes, Vol 12, Iss 1, Pp 1-5 (2019)
Abstract Objective Biliary atresia (BA) is the most common cause of neonatal jaundice, characterized by progressive and rapid liver fibrosis. Recent studies have shown that microRNAs (miRNAs) contribute to the liver fibrogenesis. We investigated the
Externí odkaz:
https://doaj.org/article/5451d92c2bc843e0a686cb85af2492ac
Autor:
Gunadi, Nova Yuli Prasetyo Budi, Alvin Santoso Kalim, Wiwid Santiko, Fuad Dheni Musthofa, Kristy Iskandar, Akhmad Makhmudi
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-6 (2019)
Abstract Background MicroRNAs (miRNAs) have been associated with the Hirschsprung disease (HSCR) pathogenesis, however, the findings are still inconclusive. We aimed to investigate the effect of miRNA-206 and its targets, fibronectin 1 (FN1), serum d
Externí odkaz:
https://doaj.org/article/85eafc337d894a17a54f4cc26f64dc8d
Autor:
Gunadi, Fiko Ryantono, Raman Sethi, Marcellus, Alvin Santoso Kalim, Priscillia Imelda, Devy Melati, Susan Simanjaya, William Widitjiarso, Ririd Tri Pitaka, Nur Arfian, Kristy Iskandar, Akhmad Makhmudi, Poh San Lai
Publikováno v:
Journal of International Medical Research, Vol 49 (2021)
Objective Cluster genes, specifically the class 3 semaphorins ( SEMA3 ) including SEMA3C , have been associated with the development of Hirschsprung disease (HSCR) in Caucasian populations. We aimed to screen for rare and common variants in SEMA3C in
Externí odkaz:
https://doaj.org/article/596c8f4ebee44d14a781649e9086e53f