Valproic acid increases SMN2 expression and modulates SF2/ASF and hnRNPA1 expression in SMA fibroblast cell lines

Indra Sari Kusuma Harahap, Toshio Saito, Lai Poh San, +11

Brain and Development

Hnrnpa1 ExpressionTranscriptional RegulationFibrosisSignal TransductionSystems Biology +9

The first Malay database toward the ethnic-specific target molecular variation

Hashim Halim‐Fikri, Ali Etemad, Ahmad Zubaidi A. Latif, +25

BMC Research Notes

Frequencies of A(TA)<sub>7</sub>TAA, G71R, and G493R Mutations of the <i>UGT1A1</i> Gene in the Malaysian Population

Surini Yusoff, Hans Van Rostenberghe, Narazah Mohd Yusoff, +6

Neonatology

A Polymorphic Mutation, c.-3279T>G, in the UGT1A1 Promoter Is a Risk Factor for Neonatal Jaundice in the Malay Population

Surini Yusoff, Atsuko Takeuchi, Chitose Ashi, +16

Pediatric Research

Ugt1a1 PromoterMedicineGeneticsMalay PopulationGenetic Epidemiology +8

Guidelines for nucleic acid detection and analysis in hematological disorders.

Rosline Hassan, Azlan Husin, Sarina Sulong, +6

PubMed

Laboratory HematologyMedicineNatural SciencesBioanalysisNucleic Acid Biochemistry +10

Generalized epilepsy with febrile seizures plus (GEFS+) spectrum: Clinical manifestations and SCN1A mutations in Indonesian patients

Elisabeth Siti Herini, Gunadi Gunadi, Indra Sari Kusuma Harahap, +9

Epilepsy Research

Scn1a MutationsNeurological DisorderGenetic DisorderFebrile SeizuresIndonesian Patients +5

Practice of iron chelation therapy for transfusion-dependent thalassemia in Southeast Asia

Nurul Fatihah Azman, Wan Zaidah Abdullah, Norsarwany Mohamad, +14

Asian Biomedicine

AnemiaTransfusion-dependent ThalassemiaSoutheast AsiaIron MetabolismTransfusion Medicine +8

Evaluation of mutation effects on UGT1A1 activity toward 17β-estradiol using liquid chromatography–tandem mass spectrometry

Keiko Wada, Atsuko Takeuchi, Kayoko Saiki, +12

Journal of Chromatography B

BiochemistryNatural SciencesMass SpectrometryBiological Mass SpectrometryMolecular Biology +2

Herbal Medicine Containing Licorice May Be Contraindicated for a Patient with an <i>HSD11B2</i> Mutation

Indra Sari Kusuma Harahap, Naoko Sasaki, Gunadi Gunadi, +11

Evidence-based Complementary and Alternative Medicine

Novel mutations in 21 patients with tuberous sclerosis complex and variation of tandem splice-acceptor sites in TSC1 exon 14.

Teguh Haryo Sasongko, Mari Wataya‐Kaneda, Keiko Koterazawa, +6

PubMed

EngineeringGeneticsMolecular BiologyPathologyMolecular Genetics +14