Craniosynostosis and Multiple Skeletal Anomalies in Humans and Zebrafish Result from a Defect in the Localized Degradation of Retinoic Acid
Laue, Kathrin, Pogoda, Hans-Martin, Daniel, Philip B., van Haeringen, Arie, Alanay, Yasemin, von Ameln, Simon, Rachwalski, Martin, Morgan, Tim, Gray, Mary J., Breuning, Martijn H., Sawyer, Gregory M., Sutherland-Smith, Andrew J., Nikkels, Peter G., Kubisch, Christian, Bloch, Wilhelm, Wollnik, Bernd, Hammerschmidt, Matthias, Robertson, Stephen P.
Published in American journal of human genetics (11.11.2011)
Published in American journal of human genetics (11.11.2011)
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Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia
Wade, Emma M., Daniel, Philip B., Jenkins, Zandra A., McInerney-Leo, Aideen, Leo, Paul, Morgan, Tim, Addor, Marie Claude, Adès, Lesley C., Bertola, Debora, Bohring, Axel, Carter, Erin, Cho, Tae-Joon, Duba, Hans-Christoph, Fletcher, Elaine, Kim, Chong A., Krakow, Deborah, Morava, Eva, Neuhann, Teresa, Superti-Furga, Andrea, Veenstra-Knol, Irma, Wieczorek, Dagmar, Wilson, Louise C., Hennekam, Raoul C.M., Sutherland-Smith, Andrew J., Strom, Tim M., Wilkie, Andrew O.M., Brown, Matthew A., Duncan, Emma L., Markie, David M., Robertson, Stephen P.
Published in American journal of human genetics (04.08.2016)
Published in American journal of human genetics (04.08.2016)
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Multipotential Nestin-Positive Stem Cells Isolated From Adult Pancreatic Islets Differentiate Ex Vivo Into Pancreatic Endocrine, Exocrine, and Hepatic Phenotypes
ZULEWSKI, Henryk, ABRAHAM, Elizabeth J, GERLACH, Melissa J, DANIEL, Philip B, MORITZ, Wolfgang, MÜLLER, Beat, VALLEJO, Mario, THOMAS, Melissa K, HABENER, Joel F
Published in Diabetes (New York, N.Y.) (01.03.2001)
Published in Diabetes (New York, N.Y.) (01.03.2001)
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Journal Article
FLNA-filaminopathy skeletal phenotypes are not due to an osteoblast autonomous loss-of-function
Wade, Emma M., Goodin, Elizabeth A., Wang, Yongqiang, Morgan, Tim, Callon, Karen E., Watson, Maureen, Daniel, Philip B., Cornish, Jillian, McCulloch, Christopher A., Robertson, Stephen P.
Published in Bone Reports (01.06.2023)
Published in Bone Reports (01.06.2023)
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Journal Article
Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype
Wade, Emma M., Jenkins, Zandra A., Daniel, Philip B., Morgan, Tim, Addor, Marie C., Adés, Lesley C., Bertola, Debora, Bohring, Axel, Carter, Erin, Cho, Tae‐Joon, de Geus, Christa M., Duba, Hans‐Christoph, Fletcher, Elaine, Hadzsiev, Kinga, Hennekam, Raoul C. M., Kim, Chong A., Krakow, Deborah, Morava, Eva, Neuhann, Teresa, Sillence, David, Superti‐Furga, Andrea, Veenstra‐Knol, Hermine E., Wieczorek, Dagmar, Wilson, Louise C., Markie, David M., Robertson, Stephen P.
Published in American journal of medical genetics. Part A (01.07.2017)
Published in American journal of medical genetics. Part A (01.07.2017)
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Journal Article
Mutations Preventing Regulated Exon Skipping in MET Cause Osteofibrous Dysplasia
Gray, Mary J., Kannu, Peter, Sharma, Swarkar, Neyt, Christine, Zhang, Dongping, Paria, Nandina, Daniel, Philip B., Whetstone, Heather, Sprenger, Hans-Georg, Hammerschmidt, Philipp, Weng, Angela, Dupuis, Lucie, Jobling, Rebekah, Mendoza-Londono, Roberto, Dray, Michael, Su, Peiqiang, Wilson, Megan J., Kapur, Raj P., McCarthy, Edward F., Alman, Benjamin A., Howard, Andrew, Somers, Gino R., Marshall, Christian R., Manners, Simon, Flanagan, Adrienne M., Rathjen, Karl E., Karol, Lori A., Crawford, Haemish, Markie, David M., Rios, Jonathan J., Wise, Carol A., Robertson, Stephen P.
Published in American journal of human genetics (03.12.2015)
Published in American journal of human genetics (03.12.2015)
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Journal Article
The hinge-1 domain of Flna is not necessary for diverse physiological functions in mice
Wade, Emma M, Goodin, Elizabeth A, Morgan, Tim, Pereira, Stephana, Woolley, Adele G, Jenkins, Zandra A, Daniel, Philip B, Robertson, Stephen P
Published in European journal of clinical investigation (31.08.2024)
Published in European journal of clinical investigation (31.08.2024)
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Journal Article
An Activating Variant in CTNNB1 is Associated with a Sclerosing Bone Dysplasia and Adrenocortical Neoplasia
Peng, Hui, Jenkins, Zandra A, White, Ruby, Connors, Sam, Hunter, Matthew F, Ronan, Anne, Zankl, Andreas, Markie, David M, Daniel, Philip B, Robertson, Stephen P
Published in The journal of clinical endocrinology and metabolism (01.03.2020)
Published in The journal of clinical endocrinology and metabolism (01.03.2020)
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Journal Article
Two conserved regions within the tissue‐type plasminogen activator gene promoter mediate regulation by brain‐derived neurotrophic factor
Daniel, Philip B., Lux, Wolfram, Samson, Andre L., Schleuning, Wolf‐Dieter, Niego, Be'eri, Weiss, Thomas W., Tjärnlund‐Wolf, Anna, Medcalf, Robert L.
Published in The FEBS journal (01.05.2007)
Published in The FEBS journal (01.05.2007)
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Journal Article
Tissue-type plasminogen activator requires a co-receptor to enhance NMDA receptor function
Samson, Andre L, Nevin, Simon T, Croucher, David, Niego, Be'eri, Daniel, Philip B, Weiss, Thomas W, Moreno, Eliza, Monard, Denis, Lawrence, Daniel A, Medcalf, Robert L
Published in Journal of neurochemistry (01.11.2008)
Published in Journal of neurochemistry (01.11.2008)
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Journal Article
TGFBR1 mutations associated with Loeys-Dietz syndrome are inactivating
Cardoso, Sarah, Robertson, Stephen P, Daniel, Philip B
Published in Journal of receptors and signal transduction (01.06.2012)
Published in Journal of receptors and signal transduction (01.06.2012)
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Journal Article
Disease-associated mutations in the actin-binding domain of filamin B cause cytoplasmic focal accumulations correlating with disease severity
Daniel, Philip B., Morgan, Tim, Alanay, Yasemin, Bijlsma, Emilia, Cho, Tae-Joon, Cole, Trevor, Collins, Felicity, David, Albert, Devriendt, Koen, Faivre, Laurence, Ikegawa, Shiro, Jacquemont, Sebastien, Jesic, Milos, Krakow, Deborah, Liebrecht, Daniela, Maitz, Silvia, Marlin, Sandrine, Morin, Gilles, Nishikubo, Toshiya, Nishimura, Gen, Prescott, Trine, Scarano, Gioacchino, Shafeghati, Yousef, Skovby, Flemming, Tsutsumi, Seiji, Whiteford, Margo, Zenker, Martin, Robertson, Stephen P.
Published in Human mutation (01.04.2012)
Published in Human mutation (01.04.2012)
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Journal Article
Novel Alternatively Spliced Exon in the Extracellular Ligand-binding Domain of the Pituitary Adenylate Cyclase-activating Polypeptide (PACAP) Type 1 Receptor (PAC1R) Selectively Increases Ligand Affinity and Alters Signal Transduction Coupling during Spermatogenesis
Daniel, P B, Kieffer, T J, Leech, C A, Habener, J F
Published in The Journal of biological chemistry (20.04.2001)
Published in The Journal of biological chemistry (20.04.2001)
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Journal Article
1 kb of 5′ flanking sequence from mouse MC4R gene is sufficient for tissue specific expression in a transgenic mouse
Daniel, Philip B., Fernando, Chathurini, Wu, C.-S. Jenny, Marnane, Rebecca, Broadhurst, Ric, Mountjoy, Kathleen G.
Published in Molecular and cellular endocrinology (15.07.2005)
Published in Molecular and cellular endocrinology (15.07.2005)
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Journal Article
Tissue-type plasminogen activator requires a co-receptor to enhance N-Methyl-D-Aspartate receptor function
Samson, Andre L., Nevin, Simon T., Croucher, David, Niego, Be’eri, Daniel, Philip B., Weiss, Thomas W., Moreno, Eliza, Monard, Denis, Lawrence, Daniel A., Medcalf, Robert L.
Published in Journal of neurochemistry (15.09.2008)
Published in Journal of neurochemistry (15.09.2008)
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Journal Article
1kb of 5′ flanking sequence from mouse MC4R gene is sufficient for tissue specific expression in a transgenic mouse
Daniel, Philip B., Fernando, Chathurini, Wu, C.-S. Jenny, Marnane, Rebecca, Broadhurst, Ric, Mountjoy, Kathleen G.
Published in Molecular and cellular endocrinology (01.07.2005)
Published in Molecular and cellular endocrinology (01.07.2005)
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