-
2
-
-
0028149890
-
Insulin-promoter-factor 1 is required for pancreas development in mice
-
Jonsson J, Carlsson L, Edlund T, Edlund H. Insulin-promoter-factor 1 is required for pancreas development in mice. Nature. 371:1994;606-609.
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(1994)
Nature
, vol.371
, pp. 606-609
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Jonsson, J.1
Carlsson, L.2
Edlund, T.3
Edlund, H.4
-
3
-
-
0031031571
-
Pancreatic agenesis attributable to a single nucleotide deletion in the human IPF1 gene coding sequence
-
of special interest. A good example of a mouse knockout providing a clue to the cause of a rare human malformation.
-
Stoffers DA, Zinkin NT, Stanojevic V, Clarke WL, Habener JF. Pancreatic agenesis attributable to a single nucleotide deletion in the human IPF1 gene coding sequence. of special interest Nat Genet. 15:1997;106-110 A good example of a mouse knockout providing a clue to the cause of a rare human malformation.
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(1997)
Nat Genet
, vol.15
, pp. 106-110
-
-
Stoffers, D.A.1
Zinkin, N.T.2
Stanojevic, V.3
Clarke, W.L.4
Habener, J.F.5
-
4
-
-
0031984825
-
Sox10 mutation disrupts neural crest development in Dom Hirschsprung mouse model
-
of special interest. See annotation [5].
-
Southard-Smith EM, Kos L, Pavan WJ. Sox10 mutation disrupts neural crest development in Dom Hirschsprung mouse model. of special interest Nat Genet. 18:1998;60-64 See annotation [5].
-
(1998)
Nat Genet
, vol.18
, pp. 60-64
-
-
Southard-Smith, E.M.1
Kos, L.2
Pavan, W.J.3
-
5
-
-
0030914364
-
Enx(Hox1 1L1)-deficient mice develop myenteric neuronal hyperplasia and megacolon
-
of special interest. Mouse knockouts have provided further genes to consider in human Hirschsprung disease.
-
Shirasawa S, Yunker A-MR, Roth KA, Brown GA, Horning S, Korsmeyer SJ. Enx(Hox1 1L1)-deficient mice develop myenteric neuronal hyperplasia and megacolon. of special interest Nat Med. 3:1997;646-650 Mouse knockouts have provided further genes to consider in human Hirschsprung disease.
-
(1997)
Nat Med
, vol.3
, pp. 646-650
-
-
Shirasawa, S.1
Yunker, A.-M.R.2
Roth, K.A.3
Brown, G.A.4
Horning, S.5
Korsmeyer, S.J.6
-
6
-
-
17344366171
-
SOX10 mutations in patients with Waardenburg-Hirschsprung disease
-
of special interest. In this study, four families with Waardenburg-Hirschsprung syndrome were shown to be segregating for mutations in the SHOX10 gene likely to result in haploinsufficiency.
-
Pingault V, Bondurand N, Kuhlbrodt K, Goerich DE, Préhu M-O, Puliti A, Herbarth B, Hermans-Borgmeyer I, Legius E, Matthijs G, et al. SOX10 mutations in patients with Waardenburg-Hirschsprung disease. of special interest Nat Genet. 18:1997;171-173 In this study, four families with Waardenburg-Hirschsprung syndrome were shown to be segregating for mutations in the SHOX10 gene likely to result in haploinsufficiency.
-
(1997)
Nat Genet
, vol.18
, pp. 171-173
-
-
Pingault, V.1
Bondurand, N.2
Kuhlbrodt, K.3
Goerich, D.E.4
Préhu, M.-O.5
Puliti, A.6
Herbarth, B.7
Hermans-Borgmeyer, I.8
Legius, E.9
Matthijs, G.10
-
7
-
-
0030735169
-
Transactivation of Igf2 in a mouse model of Beckwith-Wiedemann syndrome
-
of outstanding interest. Mouse transgenics helps to unravel the complex phenotype of Beckwith-Wiedemann syndrome: Act 1.
-
Sun F-L, Dean WL, Kelsey G, Allen ND, Reik W. Transactivation of Igf2 in a mouse model of Beckwith-Wiedemann syndrome. of outstanding interest Nature. 389:1997;809-815 Mouse transgenics helps to unravel the complex phenotype of Beckwith-Wiedemann syndrome: Act 1.
-
(1997)
Nature
, vol.389
, pp. 809-815
-
-
Sun, F.-L.1
Dean, W.L.2
Kelsey, G.3
Allen, N.D.4
Reik, W.5
-
8
-
-
1842335753
-
Altered cell differentiation and proliferation in mice lacking p57KIP2 indicates a role in Beckwith-Wiedemann syndrome
-
of outstanding interest. Mouse transgenics help to unravel the complex phenotype of Beckwith-Wiedemann syndrome: Act 2.
-
Zhang P, Liegeois NL, Wong C, Finegold M, Hou H, Thompson JC, Silverman A, Harper JW, De Pinho RA, Elledge SJ. Altered cell differentiation and proliferation in mice lacking p57KIP2 indicates a role in Beckwith-Wiedemann syndrome. of outstanding interest Nature. 387:1997;151-158 Mouse transgenics help to unravel the complex phenotype of Beckwith-Wiedemann syndrome: Act 2.
-
(1997)
Nature
, vol.387
, pp. 151-158
-
-
Zhang, P.1
Liegeois, N.L.2
Wong, C.3
Finegold, M.4
Hou, H.5
Thompson, J.C.6
Silverman, A.7
Harper, J.W.8
De Pinho, R.A.9
Elledge, S.J.10
-
9
-
-
16044364516
-
An imprinted gene p57KIP2 is mutated in Beckwith-Wiedemann syndrome
-
of special interest. In this study, it appears that p57KIP2 mutations can cause Beckwith-Wiedemann syndrome but that these may be rare (see [10]).
-
Hatada I, Morisaki H, Nakayama M, Niikawa N, Mukai T, Ohashi H, Fukushima Y, Kaneko Y, Inoue M, Komoto Y, et al. An imprinted gene p57KIP2 is mutated in Beckwith-Wiedemann syndrome. of special interest Nat Genet. 14:1996;171-173 In this study, it appears that p57KIP2 mutations can cause Beckwith-Wiedemann syndrome but that these may be rare (see [10]).
-
(1996)
Nat Genet
, vol.14
, pp. 171-173
-
-
Hatada, I.1
Morisaki, H.2
Nakayama, M.3
Niikawa, N.4
Mukai, T.5
Ohashi, H.6
Fukushima, Y.7
Kaneko, Y.8
Inoue, M.9
Komoto, Y.10
-
10
-
-
0030610261
-
Low frequency of p57kip2 mutation in Beckwith-Wiedemann syndrome
-
Lee MP, DeBaun MR, Randhawa G, Reichard BA, Elledge SJ, Feinberg A. Low frequency of p57kip2 mutation in Beckwith-Wiedemann syndrome. Am J Hum Genet. 61:1997;304-310.
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(1997)
Am J Hum Genet
, vol.61
, pp. 304-310
-
-
Lee, M.P.1
DeBaun, M.R.2
Randhawa, G.3
Reichard, B.A.4
Elledge, S.J.5
Feinberg, A.6
-
11
-
-
0030993133
-
Deletion of the H19 transcription unit reveals the existence of a putative imprinting control element
-
of special interest. Mouse transgenics helps to unravel the complex phenotype of Beckwith-Wiedemann syndrome: Act 3. The denouement in this continuing drama is still to come, however.
-
Ripoche MA, Kress C, Poirier F, Dandolo L. Deletion of the H19 transcription unit reveals the existence of a putative imprinting control element. of special interest Genes Dev. 11:1997;1596-1604 Mouse transgenics helps to unravel the complex phenotype of Beckwith-Wiedemann syndrome: Act 3. The denouement in this continuing drama is still to come, however.
-
(1997)
Genes Dev
, vol.11
, pp. 1596-1604
-
-
Ripoche, M.A.1
Kress, C.2
Poirier, F.3
Dandolo, L.4
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12
-
-
0030950759
-
An imprinting element from the mouse H19 locus functions as a silencer in Drosophila
-
of special interest. Trans-species transgenics here help to dissect out the imprinting control elements around the H19 gene.
-
Lyko F, Brenton JD, Surani MA, Paro R. An imprinting element from the mouse H19 locus functions as a silencer in Drosophila. of special interest Nat Genet. 16:1997;171-173 Trans-species transgenics here help to dissect out the imprinting control elements around the H19 gene.
-
(1997)
Nat Genet
, vol.16
, pp. 171-173
-
-
Lyko, F.1
Brenton, J.D.2
Surani, M.A.3
Paro, R.4
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13
-
-
0030660180
-
Mouse mutant embryos overexpressing IGF-II exhibit phenotypic features of the Beckwith-Wiedemann and Simpson-Golabi-Behmel syndromes
-
of special interest. Fancy genetics were used here to produce a mouse that greatly overexpresses Igf2 because of a deletion of H19 leading to biallelic expression of Igf2 and a deletion of Igf2r which reduces Igf2 turnover. These mice have many features of Beckwith-Wiedemann syndrome including exomphalos which has been attributed to p57kip2.
-
Eggenschwiler J, Ludwig T, Fisher P, Leighton PA, Tilghman SM, Efstratiadis A. Mouse mutant embryos overexpressing IGF-II exhibit phenotypic features of the Beckwith-Wiedemann and Simpson-Golabi-Behmel syndromes. of special interest Genes Dev. 11:1997;3128-3142 Fancy genetics were used here to produce a mouse that greatly overexpresses Igf2 because of a deletion of H19 leading to biallelic expression of Igf2 and a deletion of Igf2r which reduces Igf2 turnover. These mice have many features of Beckwith-Wiedemann syndrome including exomphalos which has been attributed to p57kip2.
-
(1997)
Genes Dev
, vol.11
, pp. 3128-3142
-
-
Eggenschwiler, J.1
Ludwig, T.2
Fisher, P.3
Leighton, P.A.4
Tilghman, S.M.5
Efstratiadis, A.6
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14
-
-
0030886796
-
Structure of the imprinted mouse Snrpn gene and establishment of its parental-specific methylation pattern
-
of special interest. A detailed dissection of imprinted elements and mechanisms around the Snrpn gene.
-
Shemer R, Birger Y, Riggs AD, Razin A. Structure of the imprinted mouse Snrpn gene and establishment of its parental-specific methylation pattern. of special interest Proc Natl Acad Sci USA. 94:1997;10267-10272 A detailed dissection of imprinted elements and mechanisms around the Snrpn gene.
-
(1997)
Proc Natl Acad Sci USA
, vol.94
, pp. 10267-10272
-
-
Shemer, R.1
Birger, Y.2
Riggs, A.D.3
Razin, A.4
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15
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0031012849
-
UBE3A/E6-AP mutations cause Angelman syndrome
-
of outstanding interest. After a long search, it looks as if the 'Angelman gene' has been found but the precise mechanism of action of loss of expression of UBE3A in disease is still uncertain.
-
Kishino T, Lalande M, Wagstaff J. UBE3A/E6-AP mutations cause Angelman syndrome. of outstanding interest Nat Genet. 15:1997;70-73 After a long search, it looks as if the 'Angelman gene' has been found but the precise mechanism of action of loss of expression of UBE3A in disease is still uncertain.
-
(1997)
Nat Genet
, vol.15
, pp. 70-73
-
-
Kishino, T.1
Lalande, M.2
Wagstaff, J.3
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16
-
-
0031031570
-
De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome
-
of outstanding interest. See annotation [15].
-
Matsuura T, Sutcliffe JS, Fang P, Galjaard RJ, Jiang YH, Benton CS, Rommens JM, Beaudet AL. De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome. of outstanding interest Nat Genet. 15:1997;74-77 See annotation [15].
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(1997)
Nat Genet
, vol.15
, pp. 74-77
-
-
Matsuura, T.1
Sutcliffe, J.S.2
Fang, P.3
Galjaard, R.J.4
Jiang, Y.H.5
Benton, C.S.6
Rommens, J.M.7
Beaudet, A.L.8
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17
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-
0031177936
-
A candidate model for Angelman syndrome in the mouse
-
of special interest. Nifty genetic manipulation was here used to produce a mouse UPD model of Angelman syndrome that not only has behavioural similarities to human patients but also EEG abnormalities.
-
Cattanach BM, Barr JA, Beechey CV, Martin J, Noebels J, Jones J. A candidate model for Angelman syndrome in the mouse. of special interest Mamm Genome. 8:1997;472-478 Nifty genetic manipulation was here used to produce a mouse UPD model of Angelman syndrome that not only has behavioural similarities to human patients but also EEG abnormalities.
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(1997)
Mamm Genome
, vol.8
, pp. 472-478
-
-
Cattanach, B.M.1
Barr, J.A.2
Beechey, C.V.3
Martin, J.4
Noebels, J.5
Jones, J.6
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18
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-
0030879482
-
Imprinted expression of the murine Angelman syndrome gene, Ube3a, in hippocampal and Purkinje neurons
-
of special interest. The mice generated in [17] were used in these experiments.
-
Albrecht U, Sutcliffe JS, Cattanach BM, Beechey CV, Armstrong D, Eichele G, Beaudet AL. Imprinted expression of the murine Angelman syndrome gene, Ube3a, in hippocampal and Purkinje neurons. of special interest Nat Genet. 17:1997;75-79 The mice generated in [17] were used in these experiments.
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(1997)
Nat Genet
, vol.17
, pp. 75-79
-
-
Albrecht, U.1
Sutcliffe, J.S.2
Cattanach, B.M.3
Beechey, C.V.4
Armstrong, D.5
Eichele, G.6
Beaudet, A.L.7
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19
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-
0031228039
-
The Angelman syndrome candidate gene, UBE3A/E6-AP, is imprinted in brain
-
of outstanding interest. of outstanding interest. Further evidence (see also [18]) of region-specific imprinting of Ube3a in the human brain.
-
of outstanding interest Rougeulle C, Glatt H, Lalande M. The Angelman syndrome candidate gene, UBE3A/E6-AP, is imprinted in brain. of outstanding interest Nat Genet. 17:1997;14-15 Further evidence (see also [18]) of region-specific imprinting of Ube3a in the human brain.
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(1997)
Nat Genet
, vol.17
, pp. 14-15
-
-
Rougeulle, C.1
Glatt, H.2
Lalande, M.3
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20
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19144363551
-
Defects in the determination of left-right asymmetry
-
of special interest. A useful review of human syndromes with situs abnormalities.
-
Penman Splitt M, Burn J, Goodship J. Defects in the determination of left-right asymmetry. of special interest J Med Genet. 33:1996;498-503 A useful review of human syndromes with situs abnormalities.
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(1996)
J Med Genet
, vol.33
, pp. 498-503
-
-
Penman Splitt, M.1
Burn, J.2
Goodship, J.3
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21
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16944364984
-
X-linked situs abnormalities result from mutations in ZIC3
-
of special interest. Mutations were demonstrated in a gene, ZIC3, coding for a putative zinc-finger transcription factor implicated in situs abnormalities. One frameshift, two missense, and two nonsense mutations were identified.
-
Gebbia M, Ferrero GB, Pilia G, Bassi MT, Aylsworth AS, Penman-Split M, Bird LM, Bamforth JS, Burn J, Schlessinger D, et al. X-linked situs abnormalities result from mutations in ZIC3. of special interest Nat Genet. 17:1997;305-308 Mutations were demonstrated in a gene, ZIC3, coding for a putative zinc-finger transcription factor implicated in situs abnormalities. One frameshift, two missense, and two nonsense mutations were identified.
-
(1997)
Nat Genet
, vol.17
, pp. 305-308
-
-
Gebbia, M.1
Ferrero, G.B.2
Pilia, G.3
Bassi, M.T.4
Aylsworth, A.S.5
Penman-Split, M.6
Bird, L.M.7
Bamforth, J.S.8
Burn, J.9
Schlessinger, D.10
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22
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0030692095
-
Left, right...2 which way to turn?
-
of special interest. A useful review.
-
Srivastava D. Left, right...2 which way to turn? of special interest Nat Genet. 17:1997;252-254 A useful review.
-
(1997)
Nat Genet
, vol.17
, pp. 252-254
-
-
Srivastava, D.1
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23
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0031051863
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Control of vertebrate left-right asymmetry by a Snail-related zinc finger gene
-
of outstanding interest. Experiments in the chick suggest an important role for the cSnR gene in the development of asymmetry - see main text.
-
Isaac A, Sargent MG, Cooke J. Control of vertebrate left-right asymmetry by a Snail-related zinc finger gene. of outstanding interest Science. 275:1997;1301-1304 Experiments in the chick suggest an important role for the cSnR gene in the development of asymmetry - see main text.
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(1997)
Science
, vol.275
, pp. 1301-1304
-
-
Isaac, A.1
Sargent, M.G.2
Cooke, J.3
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24
-
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0030903857
-
Regulation of cardiac mesodermal and neural crest development by the bHLH transcription factor, dHAND
-
of outstanding interest. Targeted deletion of the dHAND gene results in failure of the right ventricle to form.
-
Srivastava D, Thomas T, Lin Q, Kirby ML, Brown D, Olson EN. Regulation of cardiac mesodermal and neural crest development by the bHLH transcription factor, dHAND. of outstanding interest Nat Genet. 16:1997;154-160 Targeted deletion of the dHAND gene results in failure of the right ventricle to form.
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(1997)
Nat Genet
, vol.16
, pp. 154-160
-
-
Srivastava, D.1
Thomas, T.2
Lin, Q.3
Kirby, M.L.4
Brown, D.5
Olson, E.N.6
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25
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0030911475
-
Control of mouse cardiac morphogenesis and myogenesis by transcription factor MEF2C
-
of outstanding interest. MEF2C was shown to be important in right ventricle formation.
-
Lin Q, Schwarz J, Bucana C, Olson EN. Control of mouse cardiac morphogenesis and myogenesis by transcription factor MEF2C. of outstanding interest Science. 276:1997;1404-1407 MEF2C was shown to be important in right ventricle formation.
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(1997)
Science
, vol.276
, pp. 1404-1407
-
-
Lin, Q.1
Schwarz, J.2
Bucana, C.3
Olson, E.N.4
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26
-
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0030656618
-
Mutation of an axonemal dynein affects left-right asymmetry in inversus viscerum mice
-
of special interest. The Ipr gene is deleted in the legless (lgl) mouse as well as in the iv mouse but it is not clear whether the limb phenotype is caused by deletion of a contiguous gene.
-
Supp DM, Witte DP, Potter SS, Brueckner M. Mutation of an axonemal dynein affects left-right asymmetry in inversus viscerum mice. of special interest Nature. 389:1997;963-966 The Ipr gene is deleted in the legless (lgl) mouse as well as in the iv mouse but it is not clear whether the limb phenotype is caused by deletion of a contiguous gene.
-
(1997)
Nature
, vol.389
, pp. 963-966
-
-
Supp, D.M.1
Witte, D.P.2
Potter, S.S.3
Brueckner, M.4
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27
-
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0030769180
-
Craniosynostosis: Genes and mechanisms
-
of special interest. A good review of the molecular causes of craniosynostosis in humans.
-
Wilkie AOM. Craniosynostosis: genes and mechanisms. of special interest Hum Mol Genet. 6:1997;1647-1656 A good review of the molecular causes of craniosynostosis in humans.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 1647-1656
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-
Wilkie, A.O.M.1
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28
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-
0031012353
-
Mutations of the TWIST gene in the Saethre-Chotzen syndrome
-
of outstanding interest. A good example of how a mouse knockout provided a clue to a human malformation through mapping and morphological homology.
-
El Ghouzzi V, Le Merrer M, Perrin-Schmitt F, Lajeunie E, Benit P, Renier D, Bourgeois P, Bolcato-Bellemin AL, Munnich A, Bonaventure J. Mutations of the TWIST gene in the Saethre-Chotzen syndrome. of outstanding interest Nat Genet. 15:1997;42-46 A good example of how a mouse knockout provided a clue to a human malformation through mapping and morphological homology.
-
(1997)
Nat Genet
, vol.15
, pp. 42-46
-
-
El Ghouzzi, V.1
Le Merrer, M.2
Perrin-Schmitt, F.3
Lajeunie, E.4
Benit, P.5
Renier, D.6
Bourgeois, P.7
Bolcato-Bellemin, A.L.8
Munnich, A.9
Bonaventure, J.10
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29
-
-
0031021336
-
Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome
-
of outstanding interest. Further TWIST mutations.
-
Howard TD, Paznekas WA, Green ED, Chiang LC, Ma N, De Luna RIO, Delgado CG, Gonzalez-Ramos M, Kline AD, Jabs EW. Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome. of outstanding interest Nat Genet. 15:1997;36-41 Further TWIST mutations.
-
(1997)
Nat Genet
, vol.15
, pp. 36-41
-
-
Howard, T.D.1
Paznekas, W.A.2
Green, E.D.3
Chiang, L.C.4
Ma, N.5
De Luna, R.I.O.6
Delgado, C.G.7
Gonzalez-Ramos, M.8
Kline, A.D.9
Jabs, E.W.10
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30
-
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0030753595
-
The TWIST gene, although not disrupted in Saethre-Chotzen patients with apparently balanced translocations of 7p21, is mutated in familial and sporadic cases
-
of special interest. Four translocation cases with Saethre-Chotzen syndrome were studied and the breakpoints were at least 5 kb from TWIST, suggesting a positional effect.
-
Rose CSP, Patel P, Reardon W, Malcolm S, Winter RM. The TWIST gene, although not disrupted in Saethre-Chotzen patients with apparently balanced translocations of 7p21, is mutated in familial and sporadic cases. of special interest Hum Mol Genet. 6:1997;1369-1373 Four translocation cases with Saethre-Chotzen syndrome were studied and the breakpoints were at least 5 kb from TWIST, suggesting a positional effect.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 1369-1373
-
-
Rose, C.S.P.1
Patel, P.2
Reardon, W.3
Malcolm, S.4
Winter, R.M.5
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31
-
-
0031572280
-
Twist protein in mouse embryogenesis
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of special interest. Careful expression studies of MTwist (Mouse Twist) RNA and protein expression in mouse embryos.
-
Gitelman I. Twist protein in mouse embryogenesis. of special interest Dev Biol. 189:1997;205-214 Careful expression studies of MTwist (Mouse Twist) RNA and protein expression in mouse embryos.
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(1997)
Dev Biol
, vol.189
, pp. 205-214
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-
Gitelman, I.1
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32
-
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0030666372
-
Cbfa 1, a candidate gene for cleidocranial dysplasia syndrome, is essential for osteoblast differentiation and bone development
-
of outstanding interest. Transgenic mice that cannot express Cbfa1 have no mesenchymal osteoblast development. The Ccd mutation was found to be a deletion.
-
Otto F, Thornell AP, Crompton T, Denzel A, Gilmour KC, Rosewell IR, Stamp GW, Beddington RS, Mundlos S, Olsen BR, et al. Cbfa 1, a candidate gene for cleidocranial dysplasia syndrome, is essential for osteoblast differentiation and bone development. of outstanding interest Cell. 89:1997;765-771 Transgenic mice that cannot express Cbfa1 have no mesenchymal osteoblast development. The Ccd mutation was found to be a deletion.
-
(1997)
Cell
, vol.89
, pp. 765-771
-
-
Otto, F.1
Thornell, A.P.2
Crompton, T.3
Denzel, A.4
Gilmour, K.C.5
Rosewell, I.R.6
Stamp, G.W.7
Beddington, R.S.8
Mundlos, S.9
Olsen, B.R.10
-
33
-
-
15444351110
-
Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia
-
of special interest. Deletions, inversions and missense mutations reported in a series of CCD patients.
-
Mundlos S, Otto F, Mundlos C, Mulliken JB, Aylsworth A, Albright SG, Lindhout D, Cole WG, Henn W, Knoll JH, et al. Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia. of special interest Cell. 89:1997;773-779 Deletions, inversions and missense mutations reported in a series of CCD patients.
-
(1997)
Cell
, vol.89
, pp. 773-779
-
-
Mundlos, S.1
Otto, F.2
Mundlos, C.3
Mulliken, J.B.4
Aylsworth, A.5
Albright, S.G.6
Lindhout, D.7
Cole, W.G.8
Henn, W.9
Knoll, J.H.10
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34
-
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0030927622
-
Missense mutations abolishing DNA binding of the osteoblast-specific transcription factor OSF2/CBFA1 in cleidocranial dysplasia
-
of special interest. Here, two missense mutations are described, Met175Arg and Ser191 Asn, that result in substitution of highly conserved amino acids in the DNA-binding domain.
-
Lee B, Thirunavukkarasu K, Zhou L, Pastore L, Baldini A, Hecht J, Geoffroy V, Ducy P, Karsenty G. Missense mutations abolishing DNA binding of the osteoblast-specific transcription factor OSF2/CBFA1 in cleidocranial dysplasia. of special interest Nat Genet. 16:1997;307-310 Here, two missense mutations are described, Met175Arg and Ser191 Asn, that result in substitution of highly conserved amino acids in the DNA-binding domain.
-
(1997)
Nat Genet
, vol.16
, pp. 307-310
-
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Lee, B.1
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Strike three for GLI3
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of special interest. A good review of mutations and phenotypes for human GLI3.
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Biesecker, L.G.1
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A human chondrodysplasia due to a mutation in a TGF-β superfamily member
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Luyten, F.P.6
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38
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0030763771
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Disruption of human limb morphogenesis by a dominant negative mutation in CDMP1
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of special interest. A mutation is described here where there is substitution of tyrosine for a highly conserved cysteine residue, resulting in a protein that is not secreted and is inactive, and which prevents the secretion of other related BMP family members.
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Thomas JT, Kilpatrick MW, Lin K, Erlacher L, Lembessis P, Costa T, Tsipouras P, Luyten FP. Disruption of human limb morphogenesis by a dominant negative mutation in CDMP1. of special interest Nat Genet. 17:1997;58-64 A mutation is described here where there is substitution of tyrosine for a highly conserved cysteine residue, resulting in a protein that is not secreted and is inactive, and which prevents the secretion of other related BMP family members.
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Nat Genet
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Thomas, J.T.1
Kilpatrick, M.W.2
Lin, K.3
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Costa, T.6
Tsipouras, P.7
Luyten, F.P.8
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39
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Mutations in CDMP1 cause autosomal dominant brachydactyly type C
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Polinkovsky A, Robin NH, Thomas JT, Irons M, Lynn A, Goodman FR, Reardon W, Kant SG, Brunner HG, van der Burgt I, et al. Mutations in CDMP1 cause autosomal dominant brachydactyly type C. Nat Genet. 17:1997;18-19.
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Reardon, W.7
Kant, S.G.8
Brunner, H.G.9
Van Der Burgt, I.10
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40
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0030923585
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Abnormal skeletal patterning in embryos lacking a single Cbp allele: A partial similarity with Rubinstein-Taybi syndrome
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of special interest. Gene targeting of Cbp leads to a mouse with a similar pathology to human Rubinstein-Taybi syndrome. Interesting differences in expression on different strain backgrounds were noted. The mouse will be useful for studying the effects of downstream targets of Cbp.
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Tanaka Y, Naruse I, Maekawa H, Shiroishi T, Ishii S. Abnormal skeletal patterning in embryos lacking a single Cbp allele: a partial similarity with Rubinstein-Taybi syndrome. of special interest Proc Natl Acad Sci USA. 94:1997;10215-10220 Gene targeting of Cbp leads to a mouse with a similar pathology to human Rubinstein-Taybi syndrome. Interesting differences in expression on different strain backgrounds were noted. The mouse will be useful for studying the effects of downstream targets of Cbp.
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(1997)
Proc Natl Acad Sci USA
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Tanaka, Y.1
Naruse, I.2
Maekawa, H.3
Shiroishi, T.4
Ishii, S.5
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41
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0030901264
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Drosophila CBP is a coactivator of cubitus interruptus in hedgehog signalling
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of special interest. This study ties together homologues of several human genes involved in human dysmorphogenesis, including SHH, GLI3, SHH, PTC and BMPs.
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Akimaru H, Chen Y, Dai P, Hou D-X, Nonaka M, Smolik SM, Armstrong S, Goodman RH, Ishii S. Drosophila CBP is a coactivator of cubitus interruptus in hedgehog signalling. of special interest Nature. 386:1997;735-738 This study ties together homologues of several human genes involved in human dysmorphogenesis, including SHH, GLI3, SHH, PTC and BMPs.
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(1997)
Nature
, vol.386
, pp. 735-738
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Akimaru, H.1
Chen, Y.2
Dai, P.3
Hou, D.-X.4
Nonaka, M.5
Smolik, S.M.6
Armstrong, S.7
Goodman, R.H.8
Ishii, S.9
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42
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0030002141
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The molecular basis of hypodactyly (Hd): A deletion in Hoxa 13 leads to arrest of digital arch formation
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of special interest. This is the first naturally occurring mutation in a paralogous Hox gene causing a malformation in the mouse.
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Mortlock DP, Post LC, Innis JW. The molecular basis of hypodactyly (Hd): a deletion in Hoxa 13 leads to arrest of digital arch formation. of special interest Nat Genet. 13:1996;284-289 This is the first naturally occurring mutation in a paralogous Hox gene causing a malformation in the mouse.
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Post, L.C.2
Innis, J.W.3
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43
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0031050961
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Mutation of HOXA13 in hand-foot-genital syndrome
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of special interest. A mutation in a large five-generation pedigree converts a tryptophan residue in the homeodomain to a stop codon. This makes the human condition homologous to hypodactyly (Hd) in the mouse (see [42]).
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Mortlock DP, Innis JW. Mutation of HOXA13 in hand-foot-genital syndrome. of special interest Nat Genet. 15:1997;179-180 A mutation in a large five-generation pedigree converts a tryptophan residue in the homeodomain to a stop codon. This makes the human condition homologous to hypodactyly (Hd) in the mouse (see [42]).
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Nat Genet
, vol.15
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Mortlock, D.P.1
Innis, J.W.2
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44
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0030725263
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Serrate2 is disrupted in the mouse limb-development mutant syndactylism
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of special interest. Here, a mutation changed an invariant glycine to serine at codon 267 in the first EGF repeat. Modifiers of the phenotype were also found on chromosomes 11 and 4, the latter perhaps an allele at the Ps locus.
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Sidow A, Bulotsky MS, Kerrebrock AW, Bronson R, Daly M, Reeve M, Hawkins TL, Birren BW, Jaenisch R, Lander ES. Serrate2 is disrupted in the mouse limb-development mutant syndactylism. of special interest Nature. 389:1997;722-725 Here, a mutation changed an invariant glycine to serine at codon 267 in the first EGF repeat. Modifiers of the phenotype were also found on chromosomes 11 and 4, the latter perhaps an allele at the Ps locus.
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(1997)
Nature
, vol.389
, pp. 722-725
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Sidow, A.1
Bulotsky, M.S.2
Kerrebrock, A.W.3
Bronson, R.4
Daly, M.5
Reeve, M.6
Hawkins, T.L.7
Birren, B.W.8
Jaenisch, R.9
Lander, E.S.10
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