These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

289 related articles for article (PubMed ID: 10694918)

  • 1. A nonsense mutation (R242X) in the branched-chain alpha-keto acid dehydrogenase E1alpha subunit gene (BCKDHA) as a cause of maple syrup urine disease. Mutations in brief no. 160. Online.
    Chinsky J; Appel M; Almashanu S; Costeas P; Ambulos N; Carmi R
    Hum Mutat; 1998; 12(2):136. PubMed ID: 10694918
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Molecular defects in the E1 alpha subunit of the branched-chain alpha-ketoacid dehydrogenase complex that cause maple syrup urine disease.
    Zhang B; Zhao Y; Harris RA; Crabb DW
    Mol Biol Med; 1991 Feb; 8(1):39-47. PubMed ID: 1943689
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Maple syrup urine disease. Complete defect of the E1 beta subunit of the branched chain alpha-ketoacid dehydrogenase complex due to a deletion of an 11-bp repeat sequence which encodes a mitochondrial targeting leader peptide in a family with the disease.
    Nobukuni Y; Mitsubuchi H; Akaboshi I; Indo Y; Endo F; Yoshioka A; Matsuda I
    J Clin Invest; 1991 May; 87(5):1862-6. PubMed ID: 2022752
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Maple syrup urine disease: domain structure, mutations and exon skipping in the dihydrolipoyl transacylase (E2) component of the branched-chain alpha-keto acid dehydrogenase complex.
    Chuang DT; Fisher CW; Lau KS; Griffin TA; Wynn RM; Cox RP
    Mol Biol Med; 1991 Feb; 8(1):49-63. PubMed ID: 1943690
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Maple syrup urine disease. Complete primary structure of the E1 beta subunit of human branched chain alpha-ketoacid dehydrogenase complex deduced from the nucleotide sequence and a gene analysis of patients with this disease.
    Nobukuni Y; Mitsubuchi H; Endo F; Akaboshi I; Asaka J; Matsuda I
    J Clin Invest; 1990 Jul; 86(1):242-7. PubMed ID: 2365818
    [TBL] [Abstract][Full Text] [Related]  

  • 6. [Gene analysis of maple syrup urine disease (MSUD)].
    Mitsubuchi H; Nobukuni Y; Hayashida Y; Ohta K; Indo Y; Akaboshi I; Endo F; Matsuda I
    Rinsho Byori; 1993 May; 41(5):484-91. PubMed ID: 8350511
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Maple syrup urine disease caused by a partial deletion in the inner E2 core domain of the branched chain alpha-keto acid dehydrogenase complex due to aberrant splicing. A single base deletion at a 5'-splice donor site of an intron of the E2 gene disrupts the consensus sequence in this region.
    Mitsubuchi H; Nobukuni Y; Akaboshi I; Indo Y; Endo F; Matsuda I
    J Clin Invest; 1991 Apr; 87(4):1207-11. PubMed ID: 2010537
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Evidence of common ancestry for the maple syrup urine disease (MSUD) Y438N allele in non-Mennonite MSUD patients.
    Love-Gregory LD; Grasela J; Hillman RE; Phillips CL
    Mol Genet Metab; 2002 Jan; 75(1):79-90. PubMed ID: 11825067
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Molecular genetics of maple syrup urine disease in the Turkish population.
    Gorzelany K; Dursun A; Coşkun T; Kalkanoğlu-Sivri SH; Gökçay GF; Demirkol M; Feyen O; Wendel U
    Turk J Pediatr; 2009; 51(2):97-102. PubMed ID: 19480318
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Molecular basis of intermittent maple syrup urine disease: novel mutations in the E2 gene of the branched-chain alpha-keto acid dehydrogenase complex.
    Tsuruta M; Mitsubuchi H; Mardy S; Miura Y; Hayashida Y; Kinugasa A; Ishitsu T; Matsuda I; Indo Y
    J Hum Genet; 1998; 43(2):91-100. PubMed ID: 9621512
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Altered kinetic properties of the branched-chain alpha-keto acid dehydrogenase complex due to mutation of the beta-subunit of the branched-chain alpha-keto acid decarboxylase (E1) component in lymphoblastoid cells derived from patients with maple syrup urine disease.
    Indo Y; Kitano A; Endo F; Akaboshi I; Matsuda I
    J Clin Invest; 1987 Jul; 80(1):63-70. PubMed ID: 3597778
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Molecular and biochemical basis of intermediate maple syrup urine disease. Occurrence of homozygous G245R and F364C mutations at the E1 alpha locus of Hispanic-Mexican patients.
    Chuang JL; Davie JR; Chinsky JM; Wynn RM; Cox RP; Chuang DT
    J Clin Invest; 1995 Mar; 95(3):954-63. PubMed ID: 7883996
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Identification of twelve novel mutations in patients with classic and variant forms of maple syrup urine disease.
    Henneke M; Flaschker N; Helbling C; Müller M; Schadewaldt P; Gärtner J; Wendel U
    Hum Mutat; 2003 Nov; 22(5):417. PubMed ID: 14517957
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Molecular genetic analysis of MSUD from India reveals mutations causing altered protein truncation affecting the C-termini of E1α and E1β.
    Bashyam MD; Chaudhary AK; Sinha M; Nagarajaram HA; Devi AR; Bashyam L; Reddy EC; Dalal A
    J Cell Biochem; 2012 Oct; 113(10):3122-32. PubMed ID: 22593002
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Definition of the mutation responsible for maple syrup urine disease in Poll Shorthorns and genotyping Poll Shorthorns and Poll Herefords for maple syrup urine disease alleles.
    Dennis JA; Healy PJ
    Res Vet Sci; 1999 Aug; 67(1):1-6. PubMed ID: 10425233
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Maple syrup urine disease in a Bedouin tribe: pre- and postnatal diagnosis.
    Potashnik R; Carmi R; Sofer S; Bashan N; Abeliovich D
    Isr J Med Sci; 1987 Aug; 23(8):886-9. PubMed ID: 3679791
    [TBL] [Abstract][Full Text] [Related]  

  • 17. [Maple syrup urine disease].
    Matsuda I
    Tanpakushitsu Kakusan Koso; 1988 Apr; 33(5):585-8. PubMed ID: 3270867
    [No Abstract]   [Full Text] [Related]  

  • 18. Heterogeneity of mutations in maple syrup urine disease (MSUD): screening and identification of affected E1 alpha and E1 beta subunits of the branched-chain alpha-keto-acid dehydrogenase multienzyme complex.
    Nobukuni Y; Mitsubuchi H; Hayashida Y; Ohta K; Indo Y; Ichiba Y; Endo F; Matsuda I
    Biochim Biophys Acta; 1993 Nov; 1225(1):64-70. PubMed ID: 8161368
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A new missense mutation in the BCKDHB gene causes the classic form of maple syrup urine disease (MSUD).
    Miryounesi M; Ghafouri-Fard S; Goodarzi H; Fardaei M
    J Pediatr Endocrinol Metab; 2015 May; 28(5-6):673-5. PubMed ID: 25381949
    [TBL] [Abstract][Full Text] [Related]  

  • 20. [Maple syrup urine disease: molecular pathology of the branched chain alpha-keto acid dehydrogenase complex].
    Nobukuni Y; Mitsubuchi H; Indo Y; Endo F; Matsuda I
    Seikagaku; 1992 Feb; 64(2):67-82. PubMed ID: 1593184
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 15.