Amino Acid Substitutions in Gag Protein at Non-cleavage Sites Are Indispensable for the Development of a High Multitude of HIV-1 Resistance against Protease Inhibitors

Hiroyuki Gatanaga, Yasuhiro Suzuki, Hsinyi Tsang, +8

Journal of Biological Chemistry

Viral ReplicationHiv-1 ResistanceImmunologyMolecular BiologyAmino Acid Substitutions +19

Complete paternal uniparental isodisomy for chromosome 1 revealed by mutation analyses of the TRKA (NTRK1) gene encoding a receptor tyrosine kinase for nerve growth factor in a patient with congenital insensitivity to pain with anhidrosis

Yuichi Miura, Makoto Hiura, Katsumi Torigoe, +10

Human Genetics

Developmental BiologyGenetic DisorderReceptor Tyrosine KinaseGeneticsNeuropathic Pain +5

Congenital insensitivity to pain with anhidrosis (CIPA): effect of TRKA (NTRK1) missense mutations on autophosphorylation of the receptor tyrosine kinase for nerve growth factor

Sek Mardy

Human Molecular Genetics

Mutation and polymorphism analysis of the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor in congenital insensitivity to pain with anhidrosis (CIPA) families

Yoshiko Miura, Sek Mardy, Yutaka Awaya, +4

Human Genetics

Polymorphism AnalysisPain SyndromePain MedicineNeuropathic PainNerve Growth Factor +5

Congenital insensitivity to pain with anhidrosis (CIPA): Novel mutations of theTRKA (NTRK1) gene, a putative uniparental disomy, and a linkage of the mutantTRKA andPKLR genes in a family with CIPA and pyruvate kinase deficiency

Yasuhiro Indo, Sek Mardy, Yuichi Miura, +9

Human Mutation

GeneticsPathologyMolecular GeneticsDisease Gene IdentificationMutanttrka Andpklr Genes +14

Amino Acid Insertions near Gag Cleavage Sites Restore the Otherwise Compromised Replication of Human Immunodeficiency Virus Type 1 Variants Resistant to Protease Inhibitors

Sadahiro Tamiya, Sek Mardy, Mark F. Kavlick, +2

Journal of Virology

Structure and organization of the humanTRKA gene encoding a high affinity receptor for nerve growth factor

Yasuhiro Indo, Sek Mardy, Motoko Tsuruta, +2

The Japanese Journal of Human Genetics

Humantrka GeneSignal TransductionMolecular PhysiologyDevelopmental BiologyHigh Affinity Receptor +10

Multisystem Involvement in Congenital Insensitivity to Pain with Anhidrosis (CIPA), a Nerve Growth Factor Receptor(Trk A)-Related Disorder

Evelina Toscano, Roberto Della Casa, Sek Mardy, +5

Neuropediatrics

Pain MedicineNeuropathic PainPathologyMultisystem InvolvementPain Syndrome +17

Molecular basis of intermittent maple syrup urine disease: novel mutations in the E2 gene of the branched-chain α-keto acid dehydrogenase complex

Motoko Tsuruta, Hiroshi Mitsubuchi, Sek Mardy, +6

Journal of Human Genetics

BiochemistryE2 GeneNatural SciencesGeneticsNovel Mutations +8

Mutation and polymorphism analysis of the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor in congenital insensitivity to pain with anhidrosis (CIPA) families

Yoshiko Miura, Sek Mardy, Yutaka Awaya, +4

Human Genetics

Polymorphism AnalysisPain SyndromePain MedicineNeuropathic PainNerve Growth Factor +5