-
1
-
-
0003485813
-
-
New York: Wiley-Liss Publications
-
Siebert J.R., Cohen M.M. Jr., Sulik K.K., Shaw C-M., Lemire R.J. Holoprosencephaly. An overview and atlas of cases. 1990;Wiley-Liss Publications, New York.
-
(1990)
Holoprosencephaly. An Overview and Atlas of Cases
-
-
Siebert, J.R.1
Cohen M.M., Jr.2
Sulik, K.K.3
Shaw, C.-M.4
Lemire, R.J.5
-
2
-
-
0001373955
-
Holoprosencephaly
-
C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle, B. Childs, & B. Vogelstein. New York: MCGraw-Hill. in press
-
Muenke M., Beachy P.A. Holoprosencephaly. Scriver C.R., Beaudet A.L., Sly W.S., Valle D., Childs B., Vogelstein B. The Metabolic and Molecular Bases of Inherited Disease. 8th edn. 2000;MCGraw-Hill, New York. in press.
-
(2000)
The Metabolic and Molecular Bases of Inherited Disease. 8th Edn
-
-
Muenke, M.1
Beachy, P.A.2
-
3
-
-
0001649358
-
Holoprosencephaly: Defects of the mediobasal prosencephalon
-
New York: Oxford University Press
-
Norman M.G., McGillivray B., Kalousek D.K., Hill A., Poskitt J. Holoprosencephaly: defects of the mediobasal prosencephalon. Congenital Malformations of the Brain: Pathological, Embryological, Clinical, Radiological and Genetic Aspects. 1995;Oxford University Press, New York.
-
(1995)
Congenital Malformations of the Brain: Pathological, Embryological, Clinical, Radiological and Genetic Aspects
-
-
Norman, M.G.1
McGillivray, B.2
Kalousek, D.K.3
Hill, A.4
Poskitt, J.5
-
4
-
-
0031728633
-
Holoprosencephaly: A defect in brain patterning
-
Golden J.A. Holoprosencephaly: a defect in brain patterning. J Neuropath Exp Neurol. 57:1998;991-999.
-
(1998)
J Neuropath Exp Neurol
, vol.57
, pp. 991-999
-
-
Golden, J.A.1
-
5
-
-
0031944805
-
Holoprosencephaly: From Homer to Hedgehog
-
Ming J.E., Muenke M. Holoprosencephaly: from Homer to Hedgehog. Clin Genet. 53:1998;155-163.
-
(1998)
Clin Genet
, vol.53
, pp. 155-163
-
-
Ming, J.E.1
Muenke, M.2
-
6
-
-
0342827846
-
Holoprosencephaly survival and performance
-
Barr M. Jr., Cohen M.M. Jr. Holoprosencephaly survival and performance. Am J Med Genet. 89:1999;116-120.
-
(1999)
Am J Med Genet
, vol.89
, pp. 116-120
-
-
Barr M., Jr.1
Cohen M.M., Jr.2
-
8
-
-
0026489538
-
Perspectives on holoprosencephaly. Part II. Central nervous system, craniofacial anatomy, syndrome commentary, diagnostic approach, and experimental studies
-
Cohen M.M. Jr., Sulik K.K. Perspectives on holoprosencephaly. Part II. Central nervous system, craniofacial anatomy, syndrome commentary, diagnostic approach, and experimental studies. J Craniofac Genet Dev Biol. 12:1992;196-244.
-
(1992)
J Craniofac Genet Dev Biol
, vol.12
, pp. 196-244
-
-
Cohen M.M., Jr.1
Sulik, K.K.2
-
9
-
-
0033514957
-
Ectopic bone morphogenetic proteins 5 and 4 in the chicken forebrain lead to cyclopia and holoprosencephaly
-
Ectopic expression either of BMP4 or BMP5 in the chick prosencephalon results in HPE, cyclopia, and a proboscis. Analysis of the embryos shows that this is caused by to the loss of ventral structures by cell death whereas the dorsal structures are maintained. Hence, HPE may occur via the disruption of the dorsal-ventral patterning of the neural tube either by a lack of ventralizing factors such as SHH or an excess of dorsalizing factors such as BMPs
-
Golden J.A., Bracilovic A., McFadden K.A., Beesley J.S., Rubenstein J.L.R., Grinspan J.B. Ectopic bone morphogenetic proteins 5 and 4 in the chicken forebrain lead to cyclopia and holoprosencephaly. Proc Natl Acad Sci USA. 96:1999;2439-2444. Ectopic expression either of BMP4 or BMP5 in the chick prosencephalon results in HPE, cyclopia, and a proboscis. Analysis of the embryos shows that this is caused by to the loss of ventral structures by cell death whereas the dorsal structures are maintained. Hence, HPE may occur via the disruption of the dorsal-ventral patterning of the neural tube either by a lack of ventralizing factors such as SHH or an excess of dorsalizing factors such as BMPs.
-
(1999)
Proc Natl Acad Sci USA
, vol.96
, pp. 2439-2444
-
-
Golden, J.A.1
Bracilovic, A.2
McFadden, K.A.3
Beesley, J.S.4
Rubenstein, J.L.R.5
Grinspan, J.B.6
-
10
-
-
0011977665
-
Holoprosencephaly as a genetic model for normal craniofacial development
-
Muenke M. Holoprosencephaly as a genetic model for normal craniofacial development. Semin Dev Biol. 5:1994;293-301.
-
(1994)
Semin Dev Biol
, vol.5
, pp. 293-301
-
-
Muenke, M.1
-
11
-
-
0028023154
-
Linkage of a human malformation, familial holoprosencephaly, to chromosome 7 and evidence for genetic heterogeneity
-
Muenke M., Gurrieri F., Bay C., Yi D.H., Collins A.L., Johnson V.P., Hennekam R.C.M., Schaefer B., Weik J., Lubinsky M.et al. Linkage of a human malformation, familial holoprosencephaly, to chromosome 7 and evidence for genetic heterogeneity. Proc Natl Acad Sci USA. 91:1994;8102-8106.
-
(1994)
Proc Natl Acad Sci USA
, vol.91
, pp. 8102-8106
-
-
Muenke, M.1
Gurrieri, F.2
Bay, C.3
Yi, D.H.4
Collins, A.L.5
Johnson, V.P.6
Hennekam, R.C.M.7
Schaefer, B.8
Weik, J.9
Lubinsky, M.10
-
12
-
-
0032732443
-
The mutational spectrum of the Sonic Hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly
-
This study demonstrates the wide spectrum of SHH mutations in HPE. Interestingly, three of 23 HPE patients with an SHH mutation also had abnormalities in another gene that is expressed during forebrain development, TGIF and ZIC2, respectively, suggesting that the interactions of multiple gene products and/or environmental elements may determine the final phenotypic outcome. Variations among these factors may cause the wide variability in the clinical findings seen in HPE
-
Nanni L., Ming J.E., Bocian M., Steinhaus K., Bianchi D.W., Die Smulders C., Gianotti A., Imaizumi K., Jones K.L., Del Campo M.et al. The mutational spectrum of the Sonic Hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly. Hum Mol Genet. 8:1999;2479-2488. This study demonstrates the wide spectrum of SHH mutations in HPE. Interestingly, three of 23 HPE patients with an SHH mutation also had abnormalities in another gene that is expressed during forebrain development, TGIF and ZIC2, respectively, suggesting that the interactions of multiple gene products and/or environmental elements may determine the final phenotypic outcome. Variations among these factors may cause the wide variability in the clinical findings seen in HPE.
-
(1999)
Hum Mol Genet
, vol.8
, pp. 2479-2488
-
-
Nanni, L.1
Ming, J.E.2
Bocian, M.3
Steinhaus, K.4
Bianchi, D.W.5
Die Smulders, C.6
Gianotti, A.7
Imaizumi, K.8
Jones, K.L.9
Del Campo, M.10
-
13
-
-
0342506300
-
Smith-Lemli-Opitz syndrome
-
C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle, B. Childs, & B. Vogelstein. New York: MCGraw-Hill. in press
-
Kelley R.I. Smith-Lemli-Opitz syndrome. Scriver C.R., Beaudet A.L., Sly W.S., Valle D., Childs B., Vogelstein B. The Metabolic and Molecular Bases of Inherited Disease. 8th edn. 2000;MCGraw-Hill, New York. in press.
-
(2000)
The Metabolic and Molecular Bases of Inherited Disease. 8th Edn
-
-
Kelley, R.I.1
-
14
-
-
0031433171
-
Multiple roles of cholesterol in Hedgehog protein biogenesis and signalling
-
Beachy P.A., Cooper M.K., Young K.E., von Kessler D.P., Park W-J., Tanaka Hall T.M., Leahy D.J., Porter J.A. Multiple roles of cholesterol in Hedgehog protein biogenesis and signalling. Cold Spring Harb Symp Quant Biol. 62:1997;191-204.
-
(1997)
Cold Spring Harb Symp Quant Biol
, vol.62
, pp. 191-204
-
-
Beachy, P.A.1
Cooper, M.K.2
Young, K.E.3
Von Kessler, D.P.4
Park, W.-J.5
Tanaka Hall, T.M.6
Leahy, D.J.7
Porter, J.A.8
-
15
-
-
0032486433
-
Plant-derived and synthetic teratogens inhibit the ability of target tissues to respond to Sonic hedgehog signaling
-
Cooper M.K., Porter J.A., Young K.E., Beachy P.A. Plant-derived and synthetic teratogens inhibit the ability of target tissues to respond to Sonic hedgehog signaling. Science. 280:1998;1603-1607.
-
(1998)
Science
, vol.280
, pp. 1603-1607
-
-
Cooper, M.K.1
Porter, J.A.2
Young, K.E.3
Beachy, P.A.4
-
16
-
-
0031019090
-
Gli3 frameshift mutations cause autosomal dominant Pallister-Hall syndrome
-
Kang S., Graham J.M., Haskins-Olney A., Biesecker L.G. Gli3 frameshift mutations cause autosomal dominant Pallister-Hall syndrome. Nat Genet. 15:1997;266-268.
-
(1997)
Nat Genet
, vol.15
, pp. 266-268
-
-
Kang, S.1
Graham, J.M.2
Haskins-Olney, A.3
Biesecker, L.G.4
-
17
-
-
0029022770
-
Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP
-
Petrij F., Giles R.H., Dauwerse H.G., Saris J.J., Hennekam R.C., Masuno M., Tommerup N., van Ommen G.J., Goodman R.H., Peters D.J.et al. Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP. Nature. 376:1995;348-351.
-
(1995)
Nature
, vol.376
, pp. 348-351
-
-
Petrij, F.1
Giles, R.H.2
Dauwerse, H.G.3
Saris, J.J.4
Hennekam, R.C.5
Masuno, M.6
Tommerup, N.7
Van Ommen, G.J.8
Goodman, R.H.9
Peters, D.J.10
-
18
-
-
0031821546
-
Holoprosencephaly: A paradigm for the complex genetics of brain development
-
Roessler E., Muenke M. Holoprosencephaly: a paradigm for the complex genetics of brain development. J Inherit Metab Dis. 21:1998;481-497.
-
(1998)
J Inherit Metab Dis
, vol.21
, pp. 481-497
-
-
Roessler, E.1
Muenke, M.2
-
19
-
-
15444359695
-
Identification of a palmitic acid-modified form of human Sonic hedgehog
-
Pepinsky B., Zeng C., Wen D., Rayhorn P., Baker D.P., Williams K.P., Bixler S.A., Ambrose C.M., Garber E.A., Miatkowski K.et al. Identification of a palmitic acid-modified form of human Sonic hedgehog. J Biol Chem. 273:1998;14037-14045.
-
(1998)
J Biol Chem
, vol.273
, pp. 14037-14045
-
-
Pepinsky, B.1
Zeng, C.2
Wen, D.3
Rayhorn, P.4
Baker, D.P.5
Williams, K.P.6
Bixler, S.A.7
Ambrose, C.M.8
Garber, E.A.9
Miatkowski, K.10
-
20
-
-
0029777408
-
Cyclopia and defective axial patterning in mice lacking Sonic hedgehog gene function
-
Chiang C., Litingtung Y., Lee E., Young K.E., Corden J.L., Westphal H., Beachy P.A. Cyclopia and defective axial patterning in mice lacking Sonic hedgehog gene function. Nature. 383:1996;407-413.
-
(1996)
Nature
, vol.383
, pp. 407-413
-
-
Chiang, C.1
Litingtung, Y.2
Lee, E.3
Young, K.E.4
Corden, J.L.5
Westphal, H.6
Beachy, P.A.7
-
21
-
-
0031679850
-
Gli2 is required for induction of floor plate and adjacent cells, but not most ventral neurons in the mouse central nervous system
-
Matise M.P., Epstein D.J., Park H.L., Platt K.A., Joyner A.L. Gli2 is required for induction of floor plate and adjacent cells, but not most ventral neurons in the mouse central nervous system. Development. 125:1998;2759-2770.
-
(1998)
Development
, vol.125
, pp. 2759-2770
-
-
Matise, M.P.1
Epstein, D.J.2
Park, H.L.3
Platt, K.A.4
Joyner, A.L.5
-
22
-
-
0031691186
-
The Shh pathway in tooth development: Defects in Gli2 and Gli3 mutants
-
Hardcastle Z., Mo R., Hui C-C., Sharpe P.T. The Shh pathway in tooth development: defects in Gli2 and Gli3 mutants. Development. 125:1998;2803-2811.
-
(1998)
Development
, vol.125
, pp. 2803-2811
-
-
Hardcastle, Z.1
Mo, R.2
Hui, C.-C.3
Sharpe, P.T.4
-
23
-
-
0031816611
-
Human developmental disorders and the Sonic Hedgehog pathway
-
Ming J.E., Roessler E., Muenke M. Human developmental disorders and the Sonic Hedgehog pathway. Mol Med Today. 4:1998;343-349.
-
(1998)
Mol Med Today
, vol.4
, pp. 343-349
-
-
Ming, J.E.1
Roessler, E.2
Muenke, M.3
-
24
-
-
0030837885
-
Cytogenetic rearrangements involving the loss of the Sonic Hedgehog gene at 7q36 cause holoprosencephaly
-
Roessler E., Ward D., Gaudenz K., Belloni E., Scherer S.W., Donnai D., Siegel-Bartelt J., Tsui L-C., Muenke M. Cytogenetic rearrangements involving the loss of the Sonic Hedgehog gene at 7q36 cause holoprosencephaly. Hum Genet. 100:1997;172-181.
-
(1997)
Hum Genet
, vol.100
, pp. 172-181
-
-
Roessler, E.1
Ward, D.2
Gaudenz, K.3
Belloni, E.4
Scherer, S.W.5
Donnai, D.6
Siegel-Bartelt, J.7
Tsui, L.-C.8
Muenke, M.9
-
25
-
-
0030294408
-
Mutations in the human Sonic Hedgehog gene cause holoprosencephaly
-
Roessler E., Belloni E., Gaudenz K., Jay P., Berta P., Scherer S.W., Tsui L.C., Muenke M. Mutations in the human Sonic Hedgehog gene cause holoprosencephaly. Nat Genet. 14:1996;357-360.
-
(1996)
Nat Genet
, vol.14
, pp. 357-360
-
-
Roessler, E.1
Belloni, E.2
Gaudenz, K.3
Jay, P.4
Berta, P.5
Scherer, S.W.6
Tsui, L.C.7
Muenke, M.8
-
26
-
-
0030729082
-
Mutations in the carboxy terminus of the Sonic Hedgehog gene cause holoprosencephaly
-
Roessler E., Belloni E., Gaudenz K., Vargas F., Scherer S.W., Tsui L-C., Muenke M. Mutations in the carboxy terminus of the Sonic Hedgehog gene cause holoprosencephaly. Hum Mol Genet. 6:1997;1847-1853.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 1847-1853
-
-
Roessler, E.1
Belloni, E.2
Gaudenz, K.3
Vargas, F.4
Scherer, S.W.5
Tsui, L.-C.6
Muenke, M.7
-
27
-
-
0344678385
-
Expression of the Sonic hedgehog (SHH) gene during early human development and phenotypic expression of new mutations causing holoprosencephaly
-
This is the first study to describe SHH expression during early human development. SHH is expressed in the notochord, the floorplate of the neural tube, the posterior limb buds and, interestingly in the two opposite sites of the developing gut - the foregut and hindgut, but not the midgut. The expression studies emphasize the important role of SHH during early human embryogenesis
-
Odent S., Attié-Bitach T., Blayau M., Mathieu M., Augé J., Delezoïde A.L., Le Gall J.Y., Le Marec B., Munnich A., Vekemans M. Expression of the Sonic hedgehog (SHH) gene during early human development and phenotypic expression of new mutations causing holoprosencephaly. Hum Mol Genet. 8:1999;1683-1689. This is the first study to describe SHH expression during early human development. SHH is expressed in the notochord, the floorplate of the neural tube, the posterior limb buds and, interestingly in the two opposite sites of the developing gut - the foregut and hindgut, but not the midgut. The expression studies emphasize the important role of SHH during early human embryogenesis.
-
(1999)
Hum Mol Genet
, vol.8
, pp. 1683-1689
-
-
Odent, S.1
Attié-Bitach, T.2
Blayau, M.3
Mathieu, M.4
Augé, J.5
Delezoïde, A.L.6
Le Gall, J.Y.7
Le Marec, B.8
Munnich, A.9
Vekemans, M.10
-
28
-
-
0030458446
-
Holoprosencephaly in Smith-Lemli-Opitz syndrome: Does cholesterol metabolism affect the function of Sonic Hedgehog?
-
Kelley R.I., Roessler E., Hennekam R.C.M., Feldman G.L., Kosaki K., Jones M.C., Palumbos J.C., Muenke M. Holoprosencephaly in Smith-Lemli-Opitz syndrome: does cholesterol metabolism affect the function of Sonic Hedgehog? Am J Med Genet. 66:1996;478-484.
-
(1996)
Am J Med Genet
, vol.66
, pp. 478-484
-
-
Kelley, R.I.1
Roessler, E.2
Hennekam, R.C.M.3
Feldman, G.L.4
Kosaki, K.5
Jones, M.C.6
Palumbos, J.C.7
Muenke, M.8
-
29
-
-
0002066181
-
Mutations of PATCHED in holoprosencephaly
-
Ming J.E., Kaupas M.E., Roessler E., Brunner H.G., Nance W.E., Stratton R.F., Sujansky E., Bale S.J., Muenke M. Mutations of PATCHED in holoprosencephaly. Am J Hum Genet. 63:1998;A27.
-
(1998)
Am J Hum Genet
, vol.63
, pp. 27
-
-
Ming, J.E.1
Kaupas, M.E.2
Roessler, E.3
Brunner, H.G.4
Nance, W.E.5
Stratton, R.F.6
Sujansky, E.7
Bale, S.J.8
Muenke, M.9
-
30
-
-
0031694448
-
Holoprosencephaly due to mutations in ZIC2, a homologue of Drosophila odd-paired
-
Brown S.A., Warburton D., Brown L.Y., Yu C.Y., Roeder E.R., Stengel-Rutkowski S., Hennekam R.C., Muenke M. Holoprosencephaly due to mutations in ZIC2, a homologue of Drosophila odd-paired. Nat Genet. 20:1998;180-183.
-
(1998)
Nat Genet
, vol.20
, pp. 180-183
-
-
Brown, S.A.1
Warburton, D.2
Brown, L.Y.3
Yu, C.Y.4
Roeder, E.R.5
Stengel-Rutkowski, S.6
Hennekam, R.C.7
Muenke, M.8
-
31
-
-
0032759342
-
Molecular mechanisms of holoprosencephaly
-
Wallis D.E., Muenke M. Molecular mechanisms of holoprosencephaly. Mol Genet Metab. 66:1999;126-138.
-
(1999)
Mol Genet Metab
, vol.66
, pp. 126-138
-
-
Wallis, D.E.1
Muenke, M.2
-
32
-
-
0031568805
-
The expression of the mouse Zic1, Zic2, and Zic3 gene suggests an essential role for Zic genes in body pattern formation
-
Nagai T., Aruga J., Takada S., Gunther T., Sporle R., Schugart K., Mikoshiba K. The expression of the mouse Zic1, Zic2, and Zic3 gene suggests an essential role for Zic genes in body pattern formation. Dev Biol. 182:1997;299-313.
-
(1997)
Dev Biol
, vol.182
, pp. 299-313
-
-
Nagai, T.1
Aruga, J.2
Takada, S.3
Gunther, T.4
Sporle, R.5
Schugart, K.6
Mikoshiba, K.7
-
33
-
-
0032507944
-
Gli/Zic factors pattern the neural plate by defining domains of cell differentiation
-
Brewster R., Lee J., Ruiz i Altaba A. Gli/Zic factors pattern the neural plate by defining domains of cell differentiation. Nature. 393:1998;579-583.
-
(1998)
Nature
, vol.393
, pp. 579-583
-
-
Brewster, R.1
Lee, J.2
Ruiz, I.3
Altaba, A.4
-
34
-
-
0033064156
-
Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly
-
This study presents evidence that mutations in SIX3 and cytogenetic deletions including this gene are causes for HPE. Furthermore, detailed cytogenetic and molecular studies of chromosomal translocations in HPE demonstrate that the HPE-associated breakpoints in chromosome 2p21are <200 kb from the 5′ end of SIX3
-
Wallis D.E., Roessler E., Hehr U., Nanni L., Wiltshire T., Richieri-Costa A., Gillessen-Kaesbach G., Zackai E.H., Rommens J., Muenke M. Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly. Nat Genet. 22:1999;196-1998. This study presents evidence that mutations in SIX3 and cytogenetic deletions including this gene are causes for HPE. Furthermore, detailed cytogenetic and molecular studies of chromosomal translocations in HPE demonstrate that the HPE-associated breakpoints in chromosome 2p21are <200 kb from the 5′ end of SIX3.
-
(1999)
Nat Genet
, vol.22
, pp. 196-1998
-
-
Wallis, D.E.1
Roessler, E.2
Hehr, U.3
Nanni, L.4
Wiltshire, T.5
Richieri-Costa, A.6
Gillessen-Kaesbach, G.7
Zackai, E.H.8
Rommens, J.9
Muenke, M.10
-
35
-
-
0029617682
-
Six3, a murine homolog of the sine oculus gene, demarcates the most anterior border of the developing neural plate and is expressed during eye development
-
Oliver G., Mailhos A., Wehr R., Copeland N.G., Jenkins N.A., Gruss P. Six3, a murine homolog of the sine oculus gene, demarcates the most anterior border of the developing neural plate and is expressed during eye development. Development. 121:1995;4045-4055.
-
(1995)
Development
, vol.121
, pp. 4045-4055
-
-
Oliver, G.1
Mailhos, A.2
Wehr, R.3
Copeland, N.G.4
Jenkins, N.A.5
Gruss, P.6
-
36
-
-
0030590443
-
Identification and expression of Six family genes in mouse retina
-
Kawakami K., Ohto H., Takizawa T., Saito T. Identification and expression of Six family genes in mouse retina. FEBS Letts. 393:1996;259-263.
-
(1996)
FEBS Letts
, vol.393
, pp. 259-263
-
-
Kawakami, K.1
Ohto, H.2
Takizawa, T.3
Saito, T.4
-
37
-
-
0032169577
-
The Optx2 homeobox gene is expressed in early precursors of the eye and activates retina-specific genes
-
Toy J., Yang J-M., Leppert G.S., Sundin O.H. The Optx2 homeobox gene is expressed in early precursors of the eye and activates retina-specific genes. Proc Natl Acad Sci USA. 95:1998;10643-10648.
-
(1998)
Proc Natl Acad Sci USA
, vol.95
, pp. 10643-10648
-
-
Toy, J.1
Yang, J.-M.2
Leppert, G.S.3
Sundin, O.H.4
-
38
-
-
0002145385
-
Mutations in the transcription factor TGIF in holoprosencephaly
-
Gripp K.W., Edwards M.C., Mowat D., Meinecke P., Richieri-Costa A., Zackai E.H., Elledge S., Muenke M. Mutations in the transcription factor TGIF in holoprosencephaly. Am J Hum Genet. 63:1998;A32.
-
(1998)
Am J Hum Genet
, vol.63
, pp. 32
-
-
Gripp, K.W.1
Edwards, M.C.2
Mowat, D.3
Meinecke, P.4
Richieri-Costa, A.5
Zackai, E.H.6
Elledge, S.7
Muenke, M.8
-
39
-
-
0029558541
-
A novel homeobox protein which recognizes a TGT core and functionally interferes with a retinoid-responsive motif
-
Bertolino E., Reimund B., Wildt-Perinic Clerc R.G. A novel homeobox protein which recognizes a TGT core and functionally interferes with a retinoid-responsive motif. J Biol Chem. 270:1995;31178-31188.
-
(1995)
J Biol Chem
, vol.270
, pp. 31178-31188
-
-
Bertolino, E.1
Reimund, B.2
Wildt-Perinic Clerc, R.G.3
-
40
-
-
0029996081
-
Expression of a novel murine homeobox gene in the developing cerebellar external granular layer during its proliferation
-
Bertolino E., Wildt S., Richards G., Clerc R.G. Expression of a novel murine homeobox gene in the developing cerebellar external granular layer during its proliferation. Dev Dyn. 205:1996;410-420.
-
(1996)
Dev Dyn
, vol.205
, pp. 410-420
-
-
Bertolino, E.1
Wildt, S.2
Richards, G.3
Clerc, R.G.4
-
41
-
-
0022260109
-
Retinoic acid embryopathy
-
Lammer E.J., Chen D.T., Hoar R.M., Agnish N.D., Benke P.J., Braun J.T., Curry C.J., Fernhoff P.M., Grix A.W., Lott I.T.et al. Retinoic acid embryopathy. New Engl J Med. 313:1985;837-841.
-
(1985)
New Engl J Med
, vol.313
, pp. 837-841
-
-
Lammer, E.J.1
Chen, D.T.2
Hoar, R.M.3
Agnish, N.D.4
Benke, P.J.5
Braun, J.T.6
Curry, C.J.7
Fernhoff, P.M.8
Grix, A.W.9
Lott, I.T.10
-
42
-
-
0029129462
-
Teratogenicity of low doses of all-trans retinoic acid in presomite mouse embryos
-
Sulik K.K., Dehart D.B., Rogers J.M., Chernoff N. Teratogenicity of low doses of all-trans retinoic acid in presomite mouse embryos. Teratology. 51:1995;398-403.
-
(1995)
Teratology
, vol.51
, pp. 398-403
-
-
Sulik, K.K.1
Dehart, D.B.2
Rogers, J.M.3
Chernoff, N.4
-
43
-
-
0032749014
-
The role of sonic hedgehog in normal and abnormal craniofacial morphogenesis
-
The authors of this study use surgical and molecular experiments in the chick and demonstrate that SHH is essential for the development of the frontonasal and maxillary processes, which give rise to the mid- and upper face. Interestingly, transient loss of SHH signaling results in mild facial findings seen in HPE such as hypotelorism, whereas excess of SHH leads to hypertelorism
-
Hu D., Helms J.A. The role of sonic hedgehog in normal and abnormal craniofacial morphogenesis. Development. 126:1999;4873-4884. The authors of this study use surgical and molecular experiments in the chick and demonstrate that SHH is essential for the development of the frontonasal and maxillary processes, which give rise to the mid- and upper face. Interestingly, transient loss of SHH signaling results in mild facial findings seen in HPE such as hypotelorism, whereas excess of SHH leads to hypertelorism.
-
(1999)
Development
, vol.126
, pp. 4873-4884
-
-
Hu, D.1
Helms, J.A.2
-
44
-
-
0030837018
-
The signaling pathway mediated by the type IIB activin receptor controls axial patterning and lateral asymmetry in the mouse
-
Oh S.P., Li E. The signaling pathway mediated by the type IIB activin receptor controls axial patterning and lateral asymmetry in the mouse. Genes Dev. 11:1997;1812-1826.
-
(1997)
Genes Dev
, vol.11
, pp. 1812-1826
-
-
Oh, S.P.1
Li, E.2
-
45
-
-
0031685620
-
TGF-β signal transduction
-
Massagué J. TGF-β signal transduction. Annu Rev Biochem. 67:1998;753-791.
-
(1998)
Annu Rev Biochem
, vol.67
, pp. 753-791
-
-
Massagué, J.1
-
46
-
-
0033515620
-
A Smad transcriptional corepressor
-
This study further elucidates the TGF-β signaling pathway. The homeodomain protein TGIF was identified as a SMAD2-binding protein and a repressor of transcription. Upon entering the cell nucleus, a SMAD2-SMAD4 complex may interact with either coactivators, forming a transcriptional activation complex, or with TGIF and histone deacetylases, forming a transcriptional repressor complex, depending on the relative levels of SMAD corepressors and coactivators within the cell
-
Wotton D., Lo R.S., Lee S., Massagué J. A Smad transcriptional corepressor. Cell. 97:1999;29-39. This study further elucidates the TGF-β signaling pathway. The homeodomain protein TGIF was identified as a SMAD2-binding protein and a repressor of transcription. Upon entering the cell nucleus, a SMAD2-SMAD4 complex may interact with either coactivators, forming a transcriptional activation complex, or with TGIF and histone deacetylases, forming a transcriptional repressor complex, depending on the relative levels of SMAD corepressors and coactivators within the cell.
-
(1999)
Cell
, vol.97
, pp. 29-39
-
-
Wotton, D.1
Lo, R.S.2
Lee, S.3
Massagué, J.4
-
47
-
-
0032505052
-
Induction of the zebrafish ventral brain and floorplate requires cyclops/nodal signalling
-
Sampath K., Rubinstein A.L., Cheng A.M., Liang J.O., Fekany K., Solnica-Krezel L., Korzh V., Halpern M.E., Wright C.V.E. Induction of the zebrafish ventral brain and floorplate requires cyclops/nodal signalling. Nature. 395:1998;185-189.
-
(1998)
Nature
, vol.395
, pp. 185-189
-
-
Sampath, K.1
Rubinstein, A.L.2
Cheng, A.M.3
Liang, J.O.4
Fekany, K.5
Solnica-Krezel, L.6
Korzh, V.7
Halpern, M.E.8
Wright, C.V.E.9
-
49
-
-
0032505101
-
Zebrafish organizer development and germ-layer formation require Nodal-related signals
-
Feldman B., Gates M.A., Egan E.S., Dougan S.T., Rennebeck G., Sirotkin H.I., Schier A.F., Talbot W.S. Zebrafish organizer development and germ-layer formation require Nodal-related signals. Nature. 395:1998;181-185.
-
(1998)
Nature
, vol.395
, pp. 181-185
-
-
Feldman, B.1
Gates, M.A.2
Egan, E.S.3
Dougan, S.T.4
Rennebeck, G.5
Sirotkin, H.I.6
Schier, A.F.7
Talbot, W.S.8
-
50
-
-
0033515638
-
The EGF-CFC protein one-eyed pinhead is essential for nodal signaling
-
Gritsman K., Zhang J., Cheng S., Heckscher E., Talbot W.S., Schier A.F. The EGF-CFC protein one-eyed pinhead is essential for nodal signaling. Cell. 97:1999;121-132.
-
(1999)
Cell
, vol.97
, pp. 121-132
-
-
Gritsman, K.1
Zhang, J.2
Cheng, S.3
Heckscher, E.4
Talbot, W.S.5
Schier, A.F.6
-
51
-
-
0032565859
-
Smad2 role in mesoderm formation, left-right patterning and craniofacial development
-
Nomura M., Li E. Smad2 role in mesoderm formation, left-right patterning and craniofacial development. Nature. 393:1998;786-790.
-
(1998)
Nature
, vol.393
, pp. 786-790
-
-
Nomura, M.1
Li, E.2
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