L Li, I D Krantz, Y Deng, A Genin, A B Banta, C C Collins, M Qi, B J Trask, W L Kuo, J Cochran, T Costa, M E Pierpont, E B Rand, D A Piccoli, L Hood, N B Spinner. Nat Genet 1997
Times Cited: 862
Times Cited: 862
Times Cited
Times Co-cited
Similarity
Mutations in the human Jagged1 gene are responsible for Alagille syndrome.
T Oda, A G Elkahloun, B L Pike, K Okajima, I D Krantz, A Genin, D A Piccoli, P S Meltzer, N B Spinner, F S Collins,[...]. Nat Genet 1997
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NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway.
Ryan McDaniell, Daniel M Warthen, Pedro A Sanchez-Lara, Athma Pai, Ian D Krantz, David A Piccoli, Nancy B Spinner. Am J Hum Genet 2006
Ryan McDaniell, Daniel M Warthen, Pedro A Sanchez-Lara, Athma Pai, Ian D Krantz, David A Piccoli, Nancy B Spinner. Am J Hum Genet 2006
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Features of Alagille syndrome in 92 patients: frequency and relation to prognosis.
K M Emerick, E B Rand, E Goldmuntz, I D Krantz, N B Spinner, D A Piccoli. Hepatology 1999
K M Emerick, E B Rand, E Goldmuntz, I D Krantz, N B Spinner, D A Piccoli. Hepatology 1999
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Alagille syndrome: pathogenesis, diagnosis and management.
Peter D Turnpenny, Sian Ellard. Eur J Hum Genet 2012
Peter D Turnpenny, Sian Ellard. Eur J Hum Genet 2012
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NOTCH2 mutations in Alagille syndrome.
Binita Maya Kamath, Robert C Bauer, Kathleen M Loomes, Grace Chao, Jennifer Gerfen, Anne Hutchinson, Winita Hardikar, Gideon Hirschfield, Paloma Jara, Ian D Krantz,[...]. J Med Genet 2012
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20
Embryonic lethality and vascular defects in mice lacking the Notch ligand Jagged1.
Y Xue, X Gao, C E Lindsell, C R Norton, B Chang, C Hicks, M Gendron-Maguire, E B Rand, G Weinmaster, T Gridley. Hum Mol Genet 1999
Y Xue, X Gao, C E Lindsell, C R Norton, B Chang, C Hicks, M Gendron-Maguire, E B Rand, G Weinmaster, T Gridley. Hum Mol Genet 1999
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Mouse Model of Alagille Syndrome and Mechanisms of Jagged1 Missense Mutations.
Emma R Andersson, Indira V Chivukula, Simona Hankeova, Marika Sjöqvist, Yat Long Tsoi, Daniel Ramsköld, Jan Masek, Aiman Elmansuri, Anita Hoogendoorn, Elenae Vazquez,[...]. Gastroenterology 2018
Emma R Andersson, Indira V Chivukula, Simona Hankeova, Marika Sjöqvist, Yat Long Tsoi, Daniel Ramsköld, Jan Masek, Aiman Elmansuri, Anita Hoogendoorn, Elenae Vazquez,[...]. Gastroenterology 2018
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Jagged1 in the portal vein mesenchyme regulates intrahepatic bile duct development: insights into Alagille syndrome.
Jennifer J Hofmann, Ann C Zovein, Huilin Koh, Freddy Radtke, Gerry Weinmaster, M Luisa Iruela-Arispe. Development 2010
Jennifer J Hofmann, Ann C Zovein, Huilin Koh, Freddy Radtke, Gerry Weinmaster, M Luisa Iruela-Arispe. Development 2010
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Hepatic ductular hypoplasia associated with characteristic facies, vertebral malformations, retarded physical, mental, and sexual development, and cardiac murmur.
D Alagille, M Odièvre, M Gautier, J P Dommergues. J Pediatr 1975
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16
Jagged1 heterozygosity in mice results in a congenital cholangiopathy which is reversed by concomitant deletion of one copy of Poglut1 (Rumi).
Shakeel M Thakurdas, Mario F Lopez, Shinako Kakuda, Rodrigo Fernandez-Valdivia, Neda Zarrin-Khameh, Robert S Haltiwanger, Hamed Jafar-Nejad. Hepatology 2016
Shakeel M Thakurdas, Mario F Lopez, Shinako Kakuda, Rodrigo Fernandez-Valdivia, Neda Zarrin-Khameh, Robert S Haltiwanger, Hamed Jafar-Nejad. Hepatology 2016
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Notch signaling controls liver development by regulating biliary differentiation.
Yiwei Zong, Archana Panikkar, Jie Xu, Aline Antoniou, Peggy Raynaud, Frederic Lemaigre, Ben Z Stanger. Development 2009
Yiwei Zong, Archana Panikkar, Jie Xu, Aline Antoniou, Peggy Raynaud, Frederic Lemaigre, Ben Z Stanger. Development 2009
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The canonical Notch signaling pathway: unfolding the activation mechanism.
Raphael Kopan, Maria Xenia G Ilagan. Cell 2009
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Alagille syndrome mutation update: Comprehensive overview of JAG1 and NOTCH2 mutation frequencies and insight into missense variant classification.
Melissa A Gilbert, Robert C Bauer, Ramakrishnan Rajagopalan, Christopher M Grochowski, Grace Chao, Deborah McEldrew, James A Nassur, Elizabeth B Rand, Bryan L Krock, Binita M Kamath,[...]. Hum Mutat 2019
Melissa A Gilbert, Robert C Bauer, Ramakrishnan Rajagopalan, Christopher M Grochowski, Grace Chao, Deborah McEldrew, James A Nassur, Elizabeth B Rand, Bryan L Krock, Binita M Kamath,[...]. Hum Mutat 2019
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Vascular anomalies in Alagille syndrome: a significant cause of morbidity and mortality.
Binita M Kamath, Nancy B Spinner, Karan M Emerick, Albert E Chudley, Carol Booth, David A Piccoli, Ian D Krantz. Circulation 2004
Binita M Kamath, Nancy B Spinner, Karan M Emerick, Albert E Chudley, Carol Booth, David A Piccoli, Ian D Krantz. Circulation 2004
14
A mouse model of Alagille syndrome: Notch2 as a genetic modifier of Jag1 haploinsufficiency.
Brent McCright, Julie Lozier, Thomas Gridley. Development 2002
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14
Syndromic paucity of interlobular bile ducts (Alagille syndrome or arteriohepatic dysplasia): review of 80 cases.
D Alagille, A Estrada, M Hadchouel, M Gautier, M Odièvre, J P Dommergues. J Pediatr 1987
D Alagille, A Estrada, M Hadchouel, M Gautier, M Odièvre, J P Dommergues. J Pediatr 1987
13
Mutations in NOTCH1 cause Adams-Oliver syndrome.
Anna-Barbara Stittrich, Anna Lehman, Dale L Bodian, Justin Ashworth, Zheyuan Zong, Hong Li, Patricia Lam, Alina Khromykh, Ramaswamy K Iyer, Joseph G Vockley,[...]. Am J Hum Genet 2014
Anna-Barbara Stittrich, Anna Lehman, Dale L Bodian, Justin Ashworth, Zheyuan Zong, Hong Li, Patricia Lam, Alina Khromykh, Ramaswamy K Iyer, Joseph G Vockley,[...]. Am J Hum Genet 2014
13
De novo formation of the biliary system by TGFβ-mediated hepatocyte transdifferentiation.
Johanna R Schaub, Kari A Huppert, Simone N T Kurial, Bernadette Y Hsu, Ashley E Cast, Bryan Donnelly, Rebekah A Karns, Feng Chen, Milad Rezvani, Hubert Y Luu,[...]. Nature 2018
Johanna R Schaub, Kari A Huppert, Simone N T Kurial, Bernadette Y Hsu, Ashley E Cast, Bryan Donnelly, Rebekah A Karns, Feng Chen, Milad Rezvani, Hubert Y Luu,[...]. Nature 2018
13
Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia.
A Joutel, C Corpechot, A Ducros, K Vahedi, H Chabriat, P Mouton, S Alamowitch, V Domenga, M Cécillion, E Marechal,[...]. Nature 1996
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12
Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver Syndrome.
Josephina A N Meester, Laura Southgate, Anna-Barbara Stittrich, Hanka Venselaar, Sander J A Beekmans, Nicolette den Hollander, Emilia K Bijlsma, Appolonia Helderman-van den Enden, Joke B G M Verheij, Gustavo Glusman,[...]. Am J Hum Genet 2015
Josephina A N Meester, Laura Southgate, Anna-Barbara Stittrich, Hanka Venselaar, Sander J A Beekmans, Nicolette den Hollander, Emilia K Bijlsma, Appolonia Helderman-van den Enden, Joke B G M Verheij, Gustavo Glusman,[...]. Am J Hum Genet 2015
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Mutations in NOTCH1 cause aortic valve disease.
Vidu Garg, Alecia N Muth, Joshua F Ransom, Marie K Schluterman, Robert Barnes, Isabelle N King, Paul D Grossfeld, Deepak Srivastava. Nature 2005
Vidu Garg, Alecia N Muth, Joshua F Ransom, Marie K Schluterman, Robert Barnes, Isabelle N King, Paul D Grossfeld, Deepak Srivastava. Nature 2005
12
Intrahepatic bile ducts develop according to a new mode of tubulogenesis regulated by the transcription factor SOX9.
Aline Antoniou, Peggy Raynaud, Sabine Cordi, Yiwei Zong, François Tronche, Ben Z Stanger, Patrick Jacquemin, Christophe E Pierreux, Frederic Clotman, Frederic P Lemaigre. Gastroenterology 2009
Aline Antoniou, Peggy Raynaud, Sabine Cordi, Yiwei Zong, François Tronche, Ben Z Stanger, Patrick Jacquemin, Christophe E Pierreux, Frederic Clotman, Frederic P Lemaigre. Gastroenterology 2009
12
Systematic Review: The Epidemiology, Natural History, and Burden of Alagille Syndrome.
Binita M Kamath, Alastair Baker, Roderick Houwen, Lora Todorova, Nanda Kerkar. J Pediatr Gastroenterol Nutr 2018
Binita M Kamath, Alastair Baker, Roderick Houwen, Lora Todorova, Nanda Kerkar. J Pediatr Gastroenterol Nutr 2018
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Consequences of JAG1 mutations.
B M Kamath, L Bason, D A Piccoli, I D Krantz, N B Spinner. J Med Genet 2003
B M Kamath, L Bason, D A Piccoli, I D Krantz, N B Spinner. J Med Genet 2003
11
Notch signaling: simplicity in design, versatility in function.
Emma R Andersson, Rickard Sandberg, Urban Lendahl. Development 2011
Emma R Andersson, Rickard Sandberg, Urban Lendahl. Development 2011
11
Jagged1 (JAG1) mutations in Alagille syndrome: increasing the mutation detection rate.
D M Warthen, E C Moore, B M Kamath, J J D Morrissette, P A Sanchez-Lara, D A Piccoli, I D Krantz, N B Spinner. Hum Mutat 2006
D M Warthen, E C Moore, B M Kamath, J J D Morrissette, P A Sanchez-Lara, D A Piccoli, I D Krantz, N B Spinner. Hum Mutat 2006
10
Notch signaling: cell fate control and signal integration in development.
S Artavanis-Tsakonas, M D Rand, R J Lake. Science 1999
S Artavanis-Tsakonas, M D Rand, R J Lake. Science 1999
10
The role of notch signaling in the development of intrahepatic bile ducts.
Yuzo Kodama, Makoto Hijikata, Ryoichiro Kageyama, Kunitada Shimotohno, Tsutomu Chiba. Gastroenterology 2004
Yuzo Kodama, Makoto Hijikata, Ryoichiro Kageyama, Kunitada Shimotohno, Tsutomu Chiba. Gastroenterology 2004
10
Notch signaling controls hepatoblast differentiation by altering the expression of liver-enriched transcription factors.
Naoki Tanimizu, Atsushi Miyajima. J Cell Sci 2004
Naoki Tanimizu, Atsushi Miyajima. J Cell Sci 2004
10
The notch ligands Dll4 and Jagged1 have opposing effects on angiogenesis.
Rui Benedito, Cristina Roca, Inga Sörensen, Susanne Adams, Achim Gossler, Marcus Fruttiger, Ralf H Adams. Cell 2009
Rui Benedito, Cristina Roca, Inga Sörensen, Susanne Adams, Achim Gossler, Marcus Fruttiger, Ralf H Adams. Cell 2009
10
Bile duct proliferation in Jag1/fringe heterozygous mice identifies candidate modifiers of the Alagille syndrome hepatic phenotype.
Matthew J Ryan, Christina Bales, Anthony Nelson, Dorian M Gonzalez, Lara Underkoffler, Michelle Segalov, Jeanne Wilson-Rawls, Susan E Cole, Jennifer L Moran, Pierre Russo,[...]. Hepatology 2008
Matthew J Ryan, Christina Bales, Anthony Nelson, Dorian M Gonzalez, Lara Underkoffler, Michelle Segalov, Jeanne Wilson-Rawls, Susan E Cole, Jennifer L Moran, Pierre Russo,[...]. Hepatology 2008
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9
RBPJ mutations identified in two families affected by Adams-Oliver syndrome.
Susan J Hassed, Graham B Wiley, Shaofeng Wang, Ji-Yun Lee, Shibo Li, Weihong Xu, Zhizhuang J Zhao, John J Mulvihill, James Robertson, James Warner,[...]. Am J Hum Genet 2012
Susan J Hassed, Graham B Wiley, Shaofeng Wang, Ji-Yun Lee, Shibo Li, Weihong Xu, Zhizhuang J Zhao, John J Mulvihill, James Robertson, James Warner,[...]. Am J Hum Genet 2012
11
Notch Signaling in Development, Tissue Homeostasis, and Disease.
Chris Siebel, Urban Lendahl. Physiol Rev 2017
Chris Siebel, Urban Lendahl. Physiol Rev 2017
9
Alagille syndrome: clinical perspectives.
Maha Saleh, Binita M Kamath, David Chitayat. Appl Clin Genet 2016
Maha Saleh, Binita M Kamath, David Chitayat. Appl Clin Genet 2016
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Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.
Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector,[...]. Genet Med 2015
Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector,[...]. Genet Med 2015
9
Pathologic lower extremity fractures in children with Alagille syndrome.
Christina B Bales, Binita M Kamath, Pedro S Munoz, Alexander Nguyen, David A Piccoli, Nancy B Spinner, David Horn, Justine Shults, Mary B Leonard, Adda Grimberg,[...]. J Pediatr Gastroenterol Nutr 2010
Christina B Bales, Binita M Kamath, Pedro S Munoz, Alexander Nguyen, David A Piccoli, Nancy B Spinner, David Horn, Justine Shults, Mary B Leonard, Adda Grimberg,[...]. J Pediatr Gastroenterol Nutr 2010
22
Notch signaling is essential for vascular morphogenesis in mice.
L T Krebs, Y Xue, C R Norton, J R Shutter, M Maguire, J P Sundberg, D Gallahan, V Closson, J Kitajewski, R Callahan,[...]. Genes Dev 2000
L T Krebs, Y Xue, C R Norton, J R Shutter, M Maguire, J P Sundberg, D Gallahan, V Closson, J Kitajewski, R Callahan,[...]. Genes Dev 2000
8
Human hepatic organoids for the analysis of human genetic diseases.
Yuan Guan, Dan Xu, Phillip M Garfin, Ursula Ehmer, Melissa Hurwitz, Greg Enns, Sara Michie, Manhong Wu, Ming Zheng, Toshihiko Nishimura,[...]. JCI Insight 2017
Yuan Guan, Dan Xu, Phillip M Garfin, Ursula Ehmer, Melissa Hurwitz, Greg Enns, Sara Michie, Manhong Wu, Ming Zheng, Toshihiko Nishimura,[...]. JCI Insight 2017
9
Liver-specific inactivation of Notch2, but not Notch1, compromises intrahepatic bile duct development in mice.
Fabian Geisler, Florian Nagl, Pawel K Mazur, Marcel Lee, Ursula Zimber-Strobl, Lothar J Strobl, Freddy Radtke, Roland M Schmid, Jens T Siveke. Hepatology 2008
Fabian Geisler, Florian Nagl, Pawel K Mazur, Marcel Lee, Ursula Zimber-Strobl, Lothar J Strobl, Freddy Radtke, Roland M Schmid, Jens T Siveke. Hepatology 2008
8
Bile duct proliferation in liver-specific Jag1 conditional knockout mice: effects of gene dosage.
Kathleen M Loomes, Pierre Russo, Matthew Ryan, Anthony Nelson, Lara Underkoffler, Curtis Glover, Hong Fu, Thomas Gridley, Klaus H Kaestner, Rebecca J Oakey. Hepatology 2007
Kathleen M Loomes, Pierre Russo, Matthew Ryan, Anthony Nelson, Lara Underkoffler, Curtis Glover, Hong Fu, Thomas Gridley, Klaus H Kaestner, Rebecca J Oakey. Hepatology 2007
12
Emerging roles of Notch signaling in liver disease.
Fabian Geisler, Mario Strazzabosco. Hepatology 2015
Fabian Geisler, Mario Strazzabosco. Hepatology 2015
8
Cranial neural crest ablation of Jagged1 recapitulates the craniofacial phenotype of Alagille syndrome patients.
Ryan Humphreys, Wei Zheng, Lawrence S Prince, Xianghu Qu, Christopher Brown, Kathleen Loomes, Stacey S Huppert, Scott Baldwin, Steven Goudy. Hum Mol Genet 2012
Ryan Humphreys, Wei Zheng, Lawrence S Prince, Xianghu Qu, Christopher Brown, Kathleen Loomes, Stacey S Huppert, Scott Baldwin, Steven Goudy. Hum Mol Genet 2012
16
Regulation of mammalian Notch signaling and embryonic development by the protein O-glucosyltransferase Rumi.
Rodrigo Fernandez-Valdivia, Hideyuki Takeuchi, Amin Samarghandi, Mario Lopez, Jessica Leonardi, Robert S Haltiwanger, Hamed Jafar-Nejad. Development 2011
Rodrigo Fernandez-Valdivia, Hideyuki Takeuchi, Amin Samarghandi, Mario Lopez, Jessica Leonardi, Robert S Haltiwanger, Hamed Jafar-Nejad. Development 2011
8
Jagged1 mutations in alagille syndrome.
N B Spinner, R P Colliton, C Crosnier, I D Krantz, M Hadchouel, M Meunier-Rotival. Hum Mutat 2001
N B Spinner, R P Colliton, C Crosnier, I D Krantz, M Hadchouel, M Meunier-Rotival. Hum Mutat 2001
8
THBS2 Is a Candidate Modifier of Liver Disease Severity in Alagille Syndrome.
Ellen A Tsai, Melissa A Gilbert, Christopher M Grochowski, Lara A Underkoffler, He Meng, Xiaojie Zhang, Michael M Wang, Hailu Shitaye, Kurt D Hankenson, David Piccoli,[...]. Cell Mol Gastroenterol Hepatol 2016
Ellen A Tsai, Melissa A Gilbert, Christopher M Grochowski, Lara A Underkoffler, He Meng, Xiaojie Zhang, Michael M Wang, Hailu Shitaye, Kurt D Hankenson, David Piccoli,[...]. Cell Mol Gastroenterol Hepatol 2016
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Spectrum and frequency of jagged1 (JAG1) mutations in Alagille syndrome patients and their families.
I D Krantz, R P Colliton, A Genin, E B Rand, L Li, D A Piccoli, N B Spinner. Am J Hum Genet 1998
I D Krantz, R P Colliton, A Genin, E B Rand, L Li, D A Piccoli, N B Spinner. Am J Hum Genet 1998
8
Co-cited is the co-citation frequency, indicating how many articles cite the article together with the query article. Similarity is the co-citation as percentage of the times cited of the query article or the article in the search results, whichever is the lowest. These numbers are calculated for the last 100 citations when articles are cited more than 100 times.