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Volumn 8, Issue 3, 1998, Pages 293-297

Animal models for dysmorphology

Author keywords

[No Author keywords available]

Indexed keywords

ANIMAL MODEL; GENOME IMPRINTING; MALFORMATION SYNDROME; MORPHOLOGY; MULTIGENE FAMILY; NONHUMAN; PRIORITY JOURNAL; REVIEW;

EID: 0032102603     PISSN: 0959437X     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0959-437X(98)80084-1     Document Type: Article
Times cited : (2)

References (44)
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    • 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.
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    • X-linked situs abnormalities result from mutations in ZIC3
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    • Control of vertebrate left-right asymmetry by a Snail-related zinc finger gene
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    • Isaac, A.1    Sargent, M.G.2    Cooke, J.3
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    • Regulation of cardiac mesodermal and neural crest development by the bHLH transcription factor, dHAND
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    • 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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    • Control of mouse cardiac morphogenesis and myogenesis by transcription factor MEF2C
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    • 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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    • Lin, Q.1    Schwarz, J.2    Bucana, C.3    Olson, E.N.4
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    • 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.
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    • 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.
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    • 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.
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    • Twist protein in mouse embryogenesis
    • 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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    • Gitelman, I.1
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    • 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
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    • 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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    • 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
    • Lee, B.1    Thirunavukkarasu, K.2    Zhou, L.3    Pastore, L.4    Baldini, A.5    Hecht, J.6    Geoffroy, V.7    Ducy, P.8    Karsenty, G.9
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    • Strike three for GLI3
    • of special interest. A good review of mutations and phenotypes for human GLI3.
    • Biesecker LG. Strike three for GLI3. of special interest Nat Genet. 17:1997;259-260 A good review of mutations and phenotypes for human GLI3.
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    • Disruption of human limb morphogenesis by a dominant negative mutation in CDMP1
    • 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.
    • 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.
    • (1997) Nat Genet , vol.17 , pp. 58-64
    • Thomas, J.T.1    Kilpatrick, M.W.2    Lin, K.3    Erlacher, L.4    Lembessis, P.5    Costa, T.6    Tsipouras, P.7    Luyten, F.P.8
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    • Abnormal skeletal patterning in embryos lacking a single Cbp allele: A partial similarity with Rubinstein-Taybi syndrome
    • 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.
    • 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.
    • (1997) Proc Natl Acad Sci USA , vol.94 , pp. 10215-10220
    • Tanaka, Y.1    Naruse, I.2    Maekawa, H.3    Shiroishi, T.4    Ishii, S.5
  • 41
    • 0030901264 scopus 로고    scopus 로고
    • Drosophila CBP is a coactivator of cubitus interruptus in hedgehog signalling
    • of special interest. This study ties together homologues of several human genes involved in human dysmorphogenesis, including SHH, GLI3, SHH, PTC and BMPs.
    • 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.
    • (1997) Nature , vol.386 , pp. 735-738
    • 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
  • 42
    • 0030002141 scopus 로고    scopus 로고
    • The molecular basis of hypodactyly (Hd): A deletion in Hoxa 13 leads to arrest of digital arch formation
    • of special interest. This is the first naturally occurring mutation in a paralogous Hox gene causing a malformation in the mouse.
    • 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.
    • (1996) Nat Genet , vol.13 , pp. 284-289
    • Mortlock, D.P.1    Post, L.C.2    Innis, J.W.3
  • 43
    • 0031050961 scopus 로고    scopus 로고
    • Mutation of HOXA13 in hand-foot-genital syndrome
    • 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]).
    • 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]).
    • (1997) Nat Genet , vol.15 , pp. 179-180
    • Mortlock, D.P.1    Innis, J.W.2
  • 44
    • 0030725263 scopus 로고    scopus 로고
    • Serrate2 is disrupted in the mouse limb-development mutant syndactylism
    • 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.
    • 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.
    • (1997) Nature , vol.389 , pp. 722-725
    • 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


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.