Results 1 to 10 of about 28,212 (92)

Prevention of the disrupted enamel phenotype in Slc4a4-null mice using explant organ culture maintained in a living host kidney capsule. [PDF]

, 2014
Slc4a4-null mice are a model of proximal renal tubular acidosis (pRTA). Slc4a4 encodes the electrogenic sodium base transporter NBCe1 that is involved in transcellular base transport and pH regulation during amelogenesis.
Kurtz, Ira, Paine, Michael L, Wen, Xin
core   +15 more sources

Downregulation of FGF Signaling by Spry4 Overexpression Leads to Shape Impairment, Enamel Irregularities, and Delayed Signaling Center Formation in the Mouse Molar. [PDF]

, 2019
FGF signaling plays a critical role in tooth development, and mutations in modulators of this pathway produce a number of striking phenotypes. However, many aspects of the role of the FGF pathway in regulating the morphological features and the mineral ...
Ahn, Youngwook, Charles, Cyril, Ganss, Bernhard, Jheon, Andrew, Klein, Ophir D, Krumlauf, Robb, Marangoni, Pauline, Seidel, Kerstin, Viriot, Laurent   +8 more
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Open versus closed surgical exposure of canine teeth that are displaced in the roof of the mouth [PDF]

, 2008
Background: Palatal canines are upper permanent canine (eye) teeth that have become displaced in the roof of the mouth. They are a frequently occurring anomaly, present in 2% to 3% of the population.
Bishara, Clark, Egger, Hagg, Lewis, Peck, Peck, Peck, Shafer, Thilander   +9 more
core   +1 more source

Deficiency of the zinc finger protein ZFP106 causes motor and sensory neurodegeneration [PDF]

, 2015
Acknowledgements We are indebted to Jim Humphries, JennyCorrigan, LizDarley, Elizabeth Joynson, Natalie Walters, Sara Wells and the whole necropsy, histology, genotyping and MLC ward 6 teams at MRC Harwell for excellent technical assistance. We thank the
Abramov, Andrey Y., Acevedo-Arozena, Abraham, Bennet, David L. H., Beskina, Olga A., Brandner, Sebastian, Busam, Bharani Shiva, Carter, Sarah, Codner, Gemma, Corrochano, Silvia, Esapa, Christopher, Estabel, Jeanne, Fisher, Elizabeth M. C., Fratta, Pietro, Galino, Jorge, Greensmith, Linda, Groves, Michael, Hilton, Helen, Joyce, Peter I., Landman, Allison S., Lionikas, Arimantas, Mcgoldrick, Philip, Plagnol, Vincent, Ramirez-Solis, Ramiro, Ryder, Edward, Stewart, Michelle, Teboul, Lydia, Tucker, Jennifer, Wackerhage, Henning, White, Jacqueline K.   +28 more
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Mitochondrial dynamics–fusion, fission, movement, and mitophagy–in neurodegenerative diseases [PDF]

, 2009
Neurons are metabolically active cells with high energy demands at locations distant from the cell body. As a result, these cells are particularly dependent on mitochondrial function, as reflected by the observation that diseases of mitochondrial ...
Alexander, Baloyannis, Banchs, Bossy-Wetzel, Brockmann, Cassidy-Stone, Chang, Chen, Cho, Clark, D. C. Chan, de Brito, Delettre, Dodson, Exner, Fransson, Frezza, Gispert, H. Chen, Hollenbeck, Kim, Kim, Li, Liot, Lustbader, Macaskill, Meeusen, Milone, Mortiboys, Okamoto, Orr, Park, Parone, Popp, Reis, Suen, Ten Dijke, Trushina, Wang, Waterham, Wood-Kaczmar, Zuchner, Z  chner   +42 more
core   +3 more sources

OPA1 mutation and late-onset cardiomyopathy: mitochondrial dysfunction and mtDNA instability. [PDF]

, 2012
BackgroundMitochondrial fusion protein mutations are a cause of inherited neuropathies such as Charcot-Marie-Tooth disease and dominant optic atrophy.
Bers, Donald M, Chen, Le, Chiamvimonvat, Nipavan, Cortopassi, Gino, Davies, Vanessa, Knowlton, Anne A, Liu, Tingting, Lu, Xiyuan, Tomilov, Alexey A, Tran, Alice, Votruba, Marcela   +10 more
core   +2 more sources

Genome-wide association study of primary tooth eruption identifies pleiotropic loci associated with height and craniofacial distances [PDF]

, 2013
Twin and family studies indicate that the timing of primary tooth eruption is highly heritable, with estimates typically exceeding 80%. To identify variants involved in primary tooth eruption we performed a population based genome-wide association study ...
Alexei I. Zhurov, Anja Taanila, Anneli Pouta, Arshed M. Toma, Bakrania, Bayés de Luna, Beate St Pourcain, Bei, Bjarke Feenstra, Clive J. Hoggart, Cole, Cornelis, David M. Evans, Demetris Pillas, Di Cello, Eleftherohorinou, Eleftherohorinou, Elks, Ellen A. Nohr, Frank Geller, Freedman, Fujiwara, Geller, George Davey Smith, Ghazaleh Fatemifar, Golding, Goyal, Gu, Gudbjartsson, Hammarsund, Haraguchi, Hikake, Holmans, Horikoshi, Houlston, Hughes, Inga Prokopenko, Jernvall, Jia, John P. Kemp, Jon H. Tobias, Jussila, Kang, Kere, Kirsi Sipila, Lango Allen, Lavinia Paternoster, Levy, Li, Ligon, Mads Melbye, Marjo-Riitta Jarvelin, Meindl, Mikkola, Momoko Horikoshi, Mustonen, Nicholas J. Timpson, Nohr, Nunes, Nyholt, Paternoster, Pillas, Pispa, Pruim, Raija Lähdesmäki, Sabatti, Sakuraba, Simón-Sánchez, Soranzo, Srivastava, Stein, Stephen Richmond, Susan M. Ring, Taal, Taviaux, Tummers, Vainio, Vaz, Victoria J. Wright, Weedon, Willer, Wise, Yabe, Yang, Zhang   +84 more
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Lysmata Rafa, a New Species of Peppermint Shrimp (Crustacea, Caridea, Hippolytidae) from the Subtropical Western Atlantic [PDF]

, 2007
Lysmata rafa n. sp. is described from freshly collected specimens from the Keys West Lakes, Florida Keys, and from a museum specimen collected at Bear Cut, Biscayne Bay, Florida.
Anker, Arthur, Rhyne, Andrew L.
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DENDRITIC CELL DIFFERENTIATION BLOCKED BY PRIMARY EFFUSION LYMPHOMA-RELEASED FACTORS IS PARTIALLY RESTORED BY INHIBITION OF P38 MAPK [PDF]

, 2010
To better understand the molecular mechanisms underlying the dendritic cell (DC) defects in cancer, we analyzed which signaling pathway is implicated in the abnormal monocyte differentiation into DC determined by the presence of Primary effusion lymphoma
CIRONE, Mara, DI RENZO, Livia Maria, FAGGIONI, Alberto, FRATI, Luigi, G. Borgia, G. Lucania, TRIVEDI, PANKAJ   +6 more
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Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy [PDF]

, 2015
OBJECTIVE To expand the clinical phenotype of autosomal dominant congenital spinal muscular atrophy with lower extremity predominance (SMA-LED) due to mutations in the dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1) gene.
Al-Lozi, Muhammad T, Baas, Frank, Baloh, Robert H, Benatar, Michael, Calissano, Mattia, Chong, W K Kling, Cirak, Sebahattin, Connolly, Anne M, de Goede, Christian G E L, De Visser, Marianne, Fallon, Penny, Foley, A Reghan, Hadjikoumi, Irene, Hafezparast, Majid, Harms, Matthew B, Klein, Andrea, Mansour, Sahar, Manzur, Adnan Y, Martínez Arroyo, Amaia, Mcwilliam, Catherine, Mercuri, Eugenio, Muntoni, Francesco, Nixon, John, Overweg-Plandsoen, W C G Truus, Phadke, Rahul, Pitt, Matthew, Reilly, Mary M, Robb, Stephanie, Rodriguez Sanz, Aida, Rossor, Alexander M, Scoto, Mariacristina, Sewry, Caroline, Taylor, J Paul, Yang, Michele   +33 more
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