| 1 | ACIP, HMBS
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| Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation.
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| van Loggerenberg W, Sowlati-Hashjin S, Weile J, Hamilton R, Chawla A, Sheykhkarimli D, Gebbia M, Kishore N, Frésard L, Mustajoki S, Pischik E, Di Pierro E, Barbaro M, Floderus Y, Schmitt C, Gouya L, Colavin A, Nussbaum R, Friesema ECH, Kauppinen R, To-Figueras J, Aarsand AK, Desnick RJ, Garton M, Roth FP.
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| Am J Hum Genet. Oct 5;110(10):1769-1786. doi: 10.1016/j.ajhg.2023.08.012. Epub 2023 Sep 19. 2023
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| 2 | ACIP, HMBS
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| Characterisation of a common hotspot variant in acute intermittent porphyria sheds light on the mechanism of hydroxymethylbilane synthase function
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| Christie MS, Laitaoja M, Aarsand AK, Kallio JP, Bustad HJ.
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| FEBS Open Bio Dec;12(12):2136-2146. doi: 10.1002/2211-5463.13490. Epub 2022 Sep 26 2022
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| 3 | ACIP, HMBS
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| Profiling of Serum Metabolites of Acute Intermittent Porphyria and Asymptomatic HMBS Mutation Carriers
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| Lin CN, Shiao MS, Cheng ML, Chen CM, Kuo HC
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| Cells. Sep 28;10(10):2579. doi: 10.3390/cells10102579. 2021
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| 4 | ACIP, HMBS
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| Mitochondrial energetic defects in muscle and brain of a Hmbs-/- mouse model of acute intermittent porphyria
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| Homedan C, Schmitt C, Laafi J, Gueguen N, Desquiret-Dumas V, Lenglet H, Karim Z, Gouya L, Deybach JC, Simard G, Puy H, Malthièry Y, Reynier P.
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| Hum Mol Genet. Sep 1;24(17):5015-23. doi: 10.1093/hmg/ddv222. Epub 2015 Jun 12. 2015
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| 5 | HMBS, ACIP
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| Characterization of two missense variants in the hydroxymethylbilane synthase gene in the Israeli population, which differ in their associations with acute intermittent porphyria.
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| Schneider-Yin X, Ulbrichova D, Mamet R, Martasek P, Marohnic CC, Goren A, Minder EI, Schoenfeld N.
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| Mol Genet Metab 94(3):343-6. Epub 2008 Apr 11. 2008
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| 6 | ACIP,HMBS
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| Demystification of Chester porphyria: a nonsense mutation in the Porphobilinogen Deaminase gene.
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| Poblete-Gutierrez P, Wiederholt T, Martinez-Mir A, Merk HF, Connor JM, Christiano AM, Frank J.
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| Physiol Res 55 Suppl 2:S137-44. 2006
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| 7 | ACIP,HMBS
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| Ancestral Founder of Mutation W283X in the Porphobilinogen Deaminase Gene among Acute Intermittent Porphyria Patients.
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| Schneider-Yin X, Hergersberg M, Goldgar DE, Rufenacht UB, Schuurmans MM, Puy H, Deybach JC, Minder EI.
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| Hum Hered 54(2):69-81. 2002
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| 8 | ACIP,HMBS
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| Identification of a Prevalent Nonsense Mutation (W283X) and Two Novel Mutations in the Porphobilinogen Deaminase Gene of Swiss Patients with Acute Intermittent Porphyria.
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| Schneider-Yin X, Bogard C, Rufenacht UB, Puy H, Nordmann Y, Minder EI, Deybach J.
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| Hum Hered 50(4):247-250. 2000
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| 9 | ACIP,HMBS
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| Non-erythroid form of acute intermittent porphyria caused by promoter and frameshift mutations distant from the coding sequence of exon 1 of the HMBS gene
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| Whatley SD, Roberts AG, Llewellyn DH, Bennett CP, Garrett C, Elder GH.
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| Hum Genet 107(3):243-8. 2000
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| 10 | ACIP,HMBS
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| Comparison of complementary and genomic DNA sequencing for the detection of mutations in the HMBS gene in British patients with acute intermittent porphyria: identification of 25 novel mutations.
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| Whatley SD, et al.
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| Hum Genet 104(6):505-10. 1999
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| 11 | ACIP,HMBS
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| Identification and characterization of hydroxymethylbilane synthase mutations causing acute intermittent porphyria: evidence for an ancestral founder of the common G111R mutation.
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| De Siervi A, et al.
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| Am J Med Genet 86(4):366-75 1999
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| 12 | ACIP,HMBS
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| New mutations of the hydroxymethylbilane synthase gene in German patients with acute intermittent porphyria.
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| Gross U, Puy H, Doss M, Robreau AM, Nordmann Y, Doss MO, Deybach JC.
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| Mol Cell Probes 13(6):443-7. 1999
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| 13 | ACIP,HMBS
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| Identification and expression of mutations in the hydroxymethylbilane synthase gene causing acute intermittent porphyria (AIP).
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| Solis C, Lopez-Echaniz I, Sefarty-Graneda D, Astrin KH, Desnick RJ.
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| Mol Med 5(10):664-71. 1999
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| 14 | ACIP,HMBS
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| Three splicing defects, an insertion, and two missense mutations responsible for acute intermittent porphyria.
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| Mustajoki S, et al.
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| Hum Genet 102 : 541-548. 1998
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| 15 | ACIP,HMBS
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| Acute intermittent porphyria : alternative splicing of hydroxymethylbilane synthase mRNA excludes exons 3 and 12+.
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| Ong PM, et al.
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| Mol Cell Probes 12 : 63-70. 1998
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| 16 | ACIP,HMBS
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| Exon 1 donor splice site mutations in the porphobilinogen deaminase gene in the non-erythroid variant form of acute intermittent porphyria.
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| Puy H, et al.
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| Hum Genet 103 : 570-575. 1998
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| 17 | ACIP,HMBS
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| Diagnostic strategy, genetic diagnosis and identification of new mutations in intermittent porphyria by denaturing gradient gel electrophoresis.
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| Nissen H, et al.
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| Hum Mutat 9 : 122-130. 1997
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| 18 | ACIP,HMBS
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| Molecular analysis of porphobilinogen (PBG) deaminase gene mutations in acute intermittent porphyria: first study in patients of Slavic origin.
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| Rosipal R, Puy H, Lamoril J, Martasek P, Nordmann Y, Deybach JC.
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| Scand J Clin Lab Invest 57(3):217-24. 1997
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| 19 | ACIP,HMBS
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| Steady-state transcript levels of the porphobilinogen deaminase gene in patients with acute intermittent porphyria.
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| Mustajoki S, Kauppinen R, Mustajoki P, Suomalainen A, Peltonen L.
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| Genome Res 7(11):1054-60. 1997
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| 20 | ACIP,HMBS
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| Detection of four novel mutations in the porphobilinogen deaminase gene in French Caucasian patients with acute intermittent porphyria.
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| Puy H, et al.
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| Hum Hered 46 : 177-180. 1996
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| 21 | ACIP,HMBS
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| Acute intermittent porphyria caused by defective splicing of porphobilinogen deaminase RNA : a synonymous codon mutation at -22 bp from the 5' splice site causes skipping of exon 3.
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| Llewellyn DH, et al.
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| J Med Genet 33 : 437-438. 1996
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| 22 | ACIP,HMBS
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| Acute intermittent porphyria in Finland: 19 mutations in the porphobilinogen deaminase gene.
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| Kauppinen R, et al.
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| Hum Mol Genet 4 : 215-222. 1995
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| 23 | ACIP,HMBS
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| A point mutation, C to T, in exon 8 of the porphobilinogen deaminase gene in a Japenese family with acute intermittent porphyria.
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| Morita Y, et al.
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| Jpn J Hum Genet 40 : 207-213. 1995
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| 24 | ACIP,HMBS
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| De-novo mutation and sporadic presentation of acute intermittent porphyria.
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| Whatley SD, et al.
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| Lancet 346 : 1007-1008. 1995
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| 25 | ACIP,HMBS
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| Four mutations in the porphobilinogen deaminase gene in patients with acute intermittent porphyria.
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| Lundin G, et al.
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| J Med Genet 32 : 979-981. 1995
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| 26 | ACIP,HMBS
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| Acute intermittent porphyria : a single-base deletion and a nonsense mutation in the human hydroxymethylbilane synthase gene, predicting truncations of the enzyme polypeptide.
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| Lee GY, et al.
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| Am J Hum Genet 58 : 155-158 1995
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| 27 | ACIP,HMBS
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| Two new mutations in the porphobilinogen deaminase gene and a screening method using PCR amplification of specific alleles.
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| Lundin G, et al.
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| Hum Genet 93 : 59-62. 1994
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| 28 | ACIP,HMBS
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| Detection of eleven mutations causing acute intermittent porphyria using denaturing gradient gel electrophoresis.
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| Gu XF, et al.
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| Hum Genet 93 : 47-52. 1994
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| 29 | ACIP,HMBS
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| Acute intermittent porphyria caused by a single base insertion of C in exon 15 of the porphobilinogen deaminase gene that results in a frame shift and premature stopping of translation.
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| Daimon M, et al.
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| Hum Genet 93 : 533-537. 1994
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| 30 | ACIP,HMBS
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| Frameshift mutations in exons 9 and 10 of the porphobilinogen deaminase gene produce a crossreacting immunological material (CRIM)-negative form of acute intermittent porphyria.
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| Schreiber WE, et al.
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| Hum Genet 93 : 552-556. 1994
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| 31 | ACIP,HMBS
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| Identification of five novel mutations in the porphobilinogen deaminase gene.
|
| Mgone CS, et al.
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| Hum Mol Genet 3 : 809-811. 1994
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| 32 | ACIP,HMBS
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| Acute intermittent porphyria : identification and expression of exonic mutations in the hydroxymethylbilane synthase gene. An initiation codon missense mutation in the housekeeping transcript causes variant acute intermittent porphyria with normal expression of the erythroid-specific enzyme.
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| Chen CH, et al.
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| J Clin Invest 94 : 1927-1937. 1994
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| 33 | ACIP,HMBS
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| Molecular basis of acute intermittent porphyria : mutations and polymorphisms in the human hydroxymethylbilane synthase gene.
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| Astrin KH, et al.
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| Hum Mutat 4 : 243-252. 1994
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| 34 | ACIP,HMBS
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| High prevalence of a point mutation in the porphobilinogen deaminase gene in Dutch patients with acute intermittent porphyria.
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| Gu XF, et al.
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| Hum Genet 91 : 128-130. 1993
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| 35 | ACIP,HMBS
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| Detection of a high mutation frequency in exon 12 of the porphobilinogen deaminase gene in patients with acute intermittent porphyria.
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| Mgone CS, et al.
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| Hum Genet 92 : 619-622. 1993
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| 36 | ACIP,HMBS
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| Acute intermittent porphyria caused by a G to C mutation in exon 12 of the porphobilinogen deaminase gene that results in exon skipping.
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| Daimon M, et al.
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| Hum Genet 92 : 549-553. 1993
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| 37 | ACIP,HMBS
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| Acute intermittent porphyria caused by an arginine to histidine substitution (R26H) in the cofactor-binding cleft of porphobilinogen deaminase.
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| Llewellyn DH, et al.
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| Hum Mol Genet 2 : 1315-1316. 1993
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| 38 | ACIP,HMBS
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| Evidence for involvement of a second genetic locus on chromosome 11q in porphyrin metabolism.
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| Norton B, et al.
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| Hum Genet 91 : 576-578. 1993
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| 39 | ACIP,HMBS
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| Two new polymorphisms in introns 2 and 3 of the human porphobilinogen deaminase gene.
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| Daimon M, et al.
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| Hum Genet 92 : 115-116. 1993
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| 40 | ACIP,HMBS
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| Two novel mutations of the porphobilinogen deaminase gene in acute intermittent porphyria.
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| Gu XF, et al.
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| Hum Mol Genet 2 : 1735-1736. 1993
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| 41 | ACIP,HMBS
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| Hydroxymethylbilane synthase : complete genomic sequence and amplifiable polymorphisms in the human gene.
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| Yoo HW, et al.
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| Genomics 15 : 21-29. 1993
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| 42 | ACIP,HMBS
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| Homozygous acute intermittent porphyria : compound heterozygosity for adjacent base transitions in the same codon of the porphobilinogen deaminase gene.
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| Llewellyn DH, et al.
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| Hum Genet 89 : 97-98. 1992
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| 43 | ACIP,HMBS
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| High frequency of mutations in exon 10 of the porphobilinogen deaminase gene in patients with a CRIM-positive subtype of acute intermittent porphyria.
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| Gu XF, et al.
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| Am J Hum Genet 51 : 660-665. 1992
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| 44 | ACIP,HMBS
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| Detection of seven point mutations in the porphobilinogen deaminase gene in patients with acute intermittent porphyria, by direct sequencing of in vitro amplified cDNA.
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| Mgone CS, et al.
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| Hum Genet 90 : 12-16. 1992
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| 45 | ACIP,HMBS
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| Denaturing gradient gel electrophoresis for rapid detection of latent carriers of a subtype of acute intermittent porphyria with normal erythrocyte porphobilinogen deaminase activity.
|
| Bourgeois F, et al.
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| Clin Chem 38 : 93-95. 1992
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| 46 | ACIP,HMBS
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| Genetic heterogeneity of the porphobilinogen deaminase gene in Swedish families with acute intermittent porphyria.
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| Lee JS, et al.
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| Hum Genet 87 : 484-488. 1991
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| 47 | ACIP,HMBS
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| Molecular heterogeneity of acute intermittent porphyria : identification of four additional mutations resulting in the CRIM-negative subtype of the disease.
|
| Delfau MH, et al.
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| Am J Hum Genet 49 : 421-428. 1991
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| 48 | ACIP,HMBS
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| Evidence for a second genetic locus for porphyrin metabolism on chromosome 11q.
|
| Norton B, et al.
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| J Med Genet 28 : 551-552. 1991
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| 49 | ACIP,HMBS
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| Identification of the most common mutation within the porphobilinogen deaminase gene in Swedish patients with acute intermittent porphyria.
|
| Lee JS, et al.
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| Proc Natl Acad Sci U S A 88 : 10912-10915. 1991
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| 50 | ACIP,HMBS
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| Acute intermittent porphyria caused by a C-T mutation that produces a stop codon in the porphobilinogen deaminase gene.
|
| Scobie GA, et al.
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| Hum Genet 85 : 631-634. 1990
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| 51 | ACIP,HMBS
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| Two different point G to A mutations in exon 10 of the porphobilinogen deaminase gene are responsible for acute intermittent porphyria.
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| Delfau MH, et al.
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| J Clin Invest 86 : 1511-1516. 1990
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| 52 | ACIP,HMBS
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| Haplotyping of AIP families after amplification of genomic DNA.
|
| Anvret M, et al.
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| (HGM10) Cytogenet Cell Genet 51 : 952. 1989
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| 53 | ACIP,HMBS
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| A point mutation G->A in exon 12 of the porphobilinogen deaminase gene results in exon skipping and is responsible for acute intermittent porphyria.
|
| Grandchamp B, et al.
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| Nucleic Acids Res 17 : 6637-6649. 1989
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| 54 | ACIP,ESA4,HMBS
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| Assignment of genes for human porphobilinogen deaminase and esterase A4 to chromosomal region 11q23-qter.
|
| Giampietro P, et al.
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| Cytogenet Cell Genet 32 : 280-281. 1982
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| 55 | ACIP,HMBS
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| Assignment of human uroporphyrinogen I synthase locus to region 11qter by gene dosage effect.
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| Verneuil H de, et al.
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| Hum Genet 60 : 212-213. 1982
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| 56 | ACIP,HMBS
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| The UPS locus encoding uroporphyrinogen I synthase is located on chromosome 11.
|
| Meisler M, et al.
|
| Biochem Biophys Res Commun 95 : 170-176. 1980
|