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
Times Cited: 434
Times Cited: 434
Times Cited
Times Co-cited
Similarity
Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1.
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,[...]. Nat Genet 1997
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,[...]. Nat Genet 1997
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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
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 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
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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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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The canonical Notch signaling pathway: unfolding the activation mechanism.
Raphael Kopan, Maria Xenia G Ilagan. Cell 2009
Raphael Kopan, Maria Xenia G Ilagan. Cell 2009
22
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
20
19
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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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
D Alagille, M Odièvre, M Gautier, J P Dommergues. J Pediatr 1975
15
A mouse model of Alagille syndrome: Notch2 as a genetic modifier of Jag1 haploinsufficiency.
Brent McCright, Julie Lozier, Thomas Gridley. Development 2002
Brent McCright, Julie Lozier, Thomas Gridley. Development 2002
14
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
14
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
14
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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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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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
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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13
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
23
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
12
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
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
11
Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss.
Michael A Simpson, Melita D Irving, Esra Asilmaz, Mary J Gray, Dimitra Dafou, Frances V Elmslie, Sahar Mansour, Sue E Holder, Caroline E Brain, Barbara K Burton,[...]. Nat Genet 2011
Michael A Simpson, Melita D Irving, Esra Asilmaz, Mary J Gray, Dimitra Dafou, Frances V Elmslie, Sahar Mansour, Sue E Holder, Caroline E Brain, Barbara K Burton,[...]. Nat Genet 2011
11
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
10
10
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
13
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
18
The Canonical Notch Signaling Pathway: Structural and Biochemical Insights into Shape, Sugar, and Force.
Rhett A Kovall, Brian Gebelein, David Sprinzak, Raphael Kopan. Dev Cell 2017
Rhett A Kovall, Brian Gebelein, David Sprinzak, Raphael Kopan. Dev Cell 2017
10
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
10
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
10
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
10
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
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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Renal anomalies in Alagille syndrome: a disease-defining feature.
Binita M Kamath, Gisele Podkameni, Anne L Hutchinson, Laura D Leonard, Jennifer Gerfen, Ian D Krantz, David A Piccoli, Nancy B Spinner, Kathleen M Loomes, Kevin Meyers. Am J Med Genet A 2012
Binita M Kamath, Gisele Podkameni, Anne L Hutchinson, Laura D Leonard, Jennifer Gerfen, Ian D Krantz, David A Piccoli, Nancy B Spinner, Kathleen M Loomes, Kevin Meyers. Am J Med Genet A 2012
16
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
9
Notch signaling in human development and disease.
Andrea L Penton, Laura D Leonard, Nancy B Spinner. Semin Cell Dev Biol 2012
Andrea L Penton, Laura D Leonard, Nancy B Spinner. Semin Cell Dev Biol 2012
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
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
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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
8
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
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
8
Notch-Jagged complex structure implicates a catch bond in tuning ligand sensitivity.
Vincent C Luca, Byoung Choul Kim, Chenghao Ge, Shinako Kakuda, Di Wu, Mehdi Roein-Peikar, Robert S Haltiwanger, Cheng Zhu, Taekjip Ha, K Christopher Garcia. Science 2017
Vincent C Luca, Byoung Choul Kim, Chenghao Ge, Shinako Kakuda, Di Wu, Mehdi Roein-Peikar, Robert S Haltiwanger, Cheng Zhu, Taekjip Ha, K Christopher Garcia. Science 2017
8
Cardiovascular malformations caused by NOTCH1 mutations do not keep left: data on 428 probands with left-sided CHD and their families.
Wilhelmina S Kerstjens-Frederikse, Ingrid M B H van de Laar, Yvonne J Vos, Judith M A Verhagen, Rolf M F Berger, Klaske D Lichtenbelt, Jolien S Klein Wassink-Ruiter, Paul A van der Zwaag, Gideon J du Marchie Sarvaas, Klasien A Bergman,[...]. Genet Med 2016
Wilhelmina S Kerstjens-Frederikse, Ingrid M B H van de Laar, Yvonne J Vos, Judith M A Verhagen, Rolf M F Berger, Klaske D Lichtenbelt, Jolien S Klein Wassink-Ruiter, Paul A van der Zwaag, Gideon J du Marchie Sarvaas, Klasien A Bergman,[...]. Genet Med 2016
10
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
7
Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac Anomalies.
Laura Southgate, Maja Sukalo, Anastasios S V Karountzos, Edward J Taylor, Claire S Collinson, Deborah Ruddy, Katie M Snape, Bruno Dallapiccola, John L Tolmie, Shelagh Joss,[...]. Circ Cardiovasc Genet 2015
Laura Southgate, Maja Sukalo, Anastasios S V Karountzos, Edward J Taylor, Claire S Collinson, Deborah Ruddy, Katie M Snape, Bruno Dallapiccola, John L Tolmie, Shelagh Joss,[...]. Circ Cardiovasc Genet 2015
11
Rumi is a CAP10 domain glycosyltransferase that modifies Notch and is required for Notch signaling.
Melih Acar, Hamed Jafar-Nejad, Hideyuki Takeuchi, Akhila Rajan, Dafina Ibrani, Nadia A Rana, Hongling Pan, Robert S Haltiwanger, Hugo J Bellen. Cell 2008
Melih Acar, Hamed Jafar-Nejad, Hideyuki Takeuchi, Akhila Rajan, Dafina Ibrani, Nadia A Rana, Hongling Pan, Robert S Haltiwanger, Hugo J Bellen. Cell 2008
7
Development of the liver: Insights into organ and tissue morphogenesis.
Elke A Ober, Frédéric P Lemaigre. J Hepatol 2018
Elke A Ober, Frédéric P Lemaigre. J Hepatol 2018
8
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
7
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.