U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from Gene

Items: 1 to 20 of 24

1.
WDR72 Mutations Associated with Amelogenesis Imperfecta and Acidosis
H. Zhang, M. Koruyucu, F. Seymen, Y. Kasimoglu, J.-W. Kim, S. Tinawi, C. Zhang, M.L. Jacquemont, A.R. Vieira, J.P. Simmer, J.C.C. Hu
J Dent Res. 2019 May; 98(5): 541–548. Published online 2019 Feb 19. doi: 10.1177/0022034518824571
PMCID:
PMC6481005
AbstractArticlePDF–1.0M
2.
A Novel Homozygous WDR72 Mutation in Two Siblings with Amelogenesis Imperfecta and Mild Short Stature
A. Kuechler, J. Hentschel, I. Kurth, B. Stephan, E.-C. Prott, B. Schweiger, A. Schuster, D. Wieczorek, H.-J. Lüdecke
Mol Syndromol. 2012 Nov; 3(5): 223–229. Published online 2012 Oct 19. doi: 10.1159/000343746
PMCID:
PMC3531948
AbstractArticlePDF–433K
3.
Target gene analyses of 39 amelogenesis imperfecta kindreds
Hui-Chen Chan, Ninna M. R. P. Estrella, Rachel N. Milkovich, Jung-Wook Kim, James P. Simmer, Jan C-C. Hu
Eur J Oral Sci. Author manuscript; available in PMC 2012 Dec 1.
Published in final edited form as: Eur J Oral Sci. 2011 Dec; 119(Suppl 1): 311–323. doi: 10.1111/j.1600-0722.2011.00857.x
PMCID:
PMC3292789
AbstractArticlePDF–5.0M
4.
Amelogenesis Imperfecta: Genotype-Phenotype Studies in 71 Families
J. Timothy Wright, Melody Torain, Kimberly Long, Kim Seow, Peter Crawford, Michael J. Aldred, P. Suzanne Hart, Tom C. Hart
Cells Tissues Organs. 2011 Aug; 194(2-4): 279–283. Published online 2011 May 19. doi: 10.1159/000324339
PMCID:
PMC3178091
AbstractArticlePDF–140K
5.
Hypomaturation Amelogenesis Imperfecta due to WDR72 Mutations: A Novel Mutation and Ultrastructural Analyses of Deciduous Teeth
W. El-Sayed, R.C. Shore, D.A. Parry, C.F. Inglehearn, A.J. Mighell
Cells Tissues Organs. 2011 Jun; 194(1): 60–66. Published online 2010 Dec 29. doi: 10.1159/000322036
PMCID:
PMC3128158
AbstractArticlePDF–246K
6.
Mutations in the Beta Propeller WDR72 Cause Autosomal-Recessive Hypomaturation Amelogenesis Imperfecta
Walid El-Sayed, David A. Parry, Roger C. Shore, Mushtaq Ahmed, Hussain Jafri, Yasmin Rashid, Suhaila Al-Bahlani, Sharifa Al Harasi, Jennifer Kirkham, Chris F. Inglehearn, Alan J. Mighell
Am J Hum Genet. 2009 Nov 13; 85(5): 699–705. doi: 10.1016/j.ajhg.2009.09.014
PMCID:
PMC2775821
AbstractArticlePDF–715K
7.
Identification of the C-terminal region in Amelogenesis Imperfecta causative protein WDR72 required for Golgi localization
Dina Husein, Ahmed Alamoudi, Yoshio Ohyama, Hanna Mochida, Brigitte Ritter, Yoshiyuki Mochida
Sci Rep. 2022; 12: 4640. Published online 2022 Mar 17. doi: 10.1038/s41598-022-08719-7
PMCID:
PMC8930991
AbstractArticlePDF–2.7M
8.
Novel WDR72 Mutation and Cytoplasmic Localization
S.-K. Lee, F. Seymen, K.-E. Lee, H.-Y. Kang, M. Yildirim, E. Bahar Tuna, K. Gencay, Y.-H. Hwang, K.H. Nam, R.J. De La Garza, J.C.-C. Hu, J.P. Simmer, J.-W. Kim
J Dent Res. 2010 Dec; 89(12): 1378–1382. doi: 10.1177/0022034510382117
PMCID:
PMC3144073
AbstractArticlePDF–397K
9.
Evaluation of four novel genetic variants affecting hemoglobin A1c levels in a population-based type 2 diabetes cohort (the HUNT2 study)
Jens K Hertel, Stefan Johansson, Helge Ræder, Carl GP Platou, Kristian Midthjell, Kristian Hveem, Anders Molven, Pål R Njølstad
BMC Med Genet. 2011; 12: 20. Published online 2011 Feb 4. doi: 10.1186/1471-2350-12-20
PMCID:
PMC3044669
AbstractArticlePDF–293K
10.
A Genome-Wide Association Study Identifies a Novel Major Locus for Glycemic Control in Type 1 Diabetes, as Measured by Both A1C and Glucose
Andrew D. Paterson, Daryl Waggott, Andrew P. Boright, S. Mohsen Hosseini, Enqing Shen, Marie-Pierre Sylvestre, Isidro Wong, Bhupinder Bharaj, Patricia A. Cleary, John M. Lachin, MAGIC (Meta-Analyses of Glucose and Insulin-related traits Consortium), Jennifer E. Below, Dan Nicolae, Nancy J. Cox, Angelo J. Canty, Lei Sun, Shelley B. Bull, the Diabetes Control and Complications Trial/Epidemiology of Diabetes Interventions and Complications Research Group
Diabetes. 2010 Feb; 59(2): 539–549. Published online 2009 Oct 20. doi: 10.2337/db09-0653
PMCID:
PMC2809960
AbstractArticlePDF–141K
11.
WDR72 models of structure and function: A stage-specific regulator of enamel mineralization
K.A. Katsura, J.A. Horst, D. Chandra, T.Q. Le, Y. Nakano, Y. Zhang, O.V. Horst, L. Zhu, M.H. Le, P.K. DenBesten
Matrix Biol. Author manuscript; available in PMC 2014 Oct 4.
Published in final edited form as: Matrix Biol. 2014 Sep; 0: 48–58. Published online 2014 Jul 4. doi: 10.1016/j.matbio.2014.06.005
PMCID:
PMC4185229
AbstractArticlePDF–1.7M
12.
Joint influence of small-effect genetic variants on human longevity
Anatoliy I. Yashin, Deqing Wu, Konstantin G. Arbeev, Svetlana V. Ukraintseva
Aging (Albany NY) 2010 Sep; 2(9): 612–620. Published online 2010 Aug 26. doi: 10.18632/aging.100191
PMCID:
PMC2984609
AbstractArticlePDF–1.3M
13.
Meta-analysis identifies multiple loci associated with kidney function–related traits in east Asian populations
Yukinori Okada, Xueling Sim, Min Jin Go, Jer-Yuarn Wu, Dongfeng Gu, Fumihiko Takeuchi, Atsushi Takahashi, Shiro Maeda, Tatsuhiko Tsunoda, Peng Chen, Su-Chi Lim, Tien-Yin Wong, Jianjun Liu, Terri L Young, Tin Aung, Mark Seielstad, Yik-Ying Teo, Young Jin Kim, Jong-Young Lee, Bok-Ghee Han, Chien-Hsiun Chen, Daehee Kang, Fuu-Jen Tsai, Li-Ching Chang, S-J Cathy Fann, Hao Mei, Dabeeru C Rao, James E Hixson, Shufeng Chen, Tomohiro Katsuya, Masato Isono, Toshio Ogihara, John C Chambers, Weihua Zhang, Jaspal S Kooner, The KidneyGen Consortium, The CKDGen Consortium, Eva Albrecht, The GUGC consortium, Kazuhiko Yamamoto, Michiaki Kubo, Yusuke Nakamura, Naoyuki Kamatani, Norihiro Kato, Jiang He, Yuan-Tsong Chen, Yoon Shin Cho, E-Shyong Tai, Toshihiro Tanaka
Nat Genet. Author manuscript; available in PMC 2016 Feb 2.
Published in final edited form as: Nat Genet. 2012 Aug; 44(8): 904–909. Published online 2012 Jul 15. doi: 10.1038/ng.2352
PMCID:
PMC4737645
AbstractArticlePDF–946K
14.
Multiple New Loci Associated with Kidney Function and Chronic Kidney Disease: The CKDGen consortium
Anna Köttgen, Cristian Pattaro, Carsten A. Böger, Christian Fuchsberger, Matthias Olden, Nicole L. Glazer, Afshin Parsa, Xiaoyi Gao, Qiong Yang, Albert V. Smith, Jeffrey R. O’Connell, Man Li, Helena Schmidt, Toshiko Tanaka, Aaron Isaacs, Shamika Ketkar, Shih-Jen Hwang, Andrew D. Johnson, Abbas Dehghan, Alexander Teumer, Guillaume Paré, Elizabeth J. Atkinson, Tanja Zeller, Kurt Lohman, Marilyn C. Cornelis, Nicole M. Probst-Hensch, Florian Kronenberg, Anke Tönjes, Caroline Hayward, Thor Aspelund, Gudny Eiriksdottir, Lenore Launer, Tamara B. Harris, Evadnie Rapmersaud, Braxton D. Mitchell, Eric Boerwinkle, Maksim Struchalin, Margherita Cavalieri, Andrew Singleton, Francesco Giallauria, Jeffery Metter, Ian de Boer, Talin Haritunians, Thomas Lumley, David Siscovick, Bruce M. Psaty, M. Carola Zillikens, Ben A. Oostra, Mary Feitosa, Michael Province, Daniel Levy, Mariza de Andrade, Stephen T. Turner, Arne Schillert, Andreas Ziegler, Philipp S. Wild, Renate B. Schnabel, Sandra Wilde, Thomas F. Muenzel, Tennille S Leak, Thomas Illig, Norman Klopp, Christa Meisinger, H.-Erich Wichmann, Wolfgang Koenig, Lina Zgaga, Tatijana Zemunik, Ivana Kolcic, Cosetta Minelli, Frank B. Hu, Åsa Johansson, Wilmar Igl, Ghazal Zaboli, Sarah H Wild, Alan F Wright, Harry Campbell, David Ellinghaus, Stefan Schreiber, Yurii S Aulchenko, Fernando Rivadeneira, Andre G Uitterlinden, Albert Hofman, Medea Imboden, Dorothea Nitsch, Anita Brandstätter, Barbara Kollerits, Lyudmyla Kedenko, Reedik Mägi, Michael Stumvoll, Peter Kovacs, Mladen Boban, Susan Campbell, Karlhans Endlich, Henry Völzke, Heyo K. Kroemer, Matthias Nauck, Uwe Völker, Ozren Polasek, Veronique Vitart, Sunita Badola, Alexander N. Parker, Paul M. Ridker, Sharon L. R. Kardia, Stefan Blankenberg, Yongmei Liu, Gary C. Curhan, Andre Franke, Thierry Rochat, Bernhard Paulweber, Inga Prokopenko, Wei Wang, Vilmundur Gudnason, Alan R. Shuldiner, Josef Coresh, Reinhold Schmidt, Luigi Ferrucci, Michael G. Shlipak, Cornelia M. van Duijn, Ingrid Borecki, Bernhard K. Krämer, Igor Rudan, Ulf Gyllensten, James F. Wilson, Jacqueline C. Witteman, Peter P. Pramstaller, Rainer Rettig, Nick Hastie, Daniel I. Chasman, W. H. Kao, Iris M. Heid, Caroline S. Fox
Nat Genet. Author manuscript; available in PMC 2010 Dec 6.
Published in final edited form as: Nat Genet. 2010 May; 42(5): 376–384. Published online 2010 Apr 11. doi: 10.1038/ng.568
PMCID:
PMC2997674
AbstractArticlePDF–435K
15.
Circular RNA FOXP1 promotes tumor progression and Warburg effect in gallbladder cancer by regulating PKLR expression
Shouhua Wang, Yongjie Zhang, Qiang Cai, Mingzhe Ma, Long Yang Jin, Mingzhe Weng, Di Zhou, Zhaohui Tang, Jian Dong Wang, Zhiwei Quan
Mol Cancer. 2019; 18: 145. Published online 2019 Oct 17. doi: 10.1186/s12943-019-1078-z
PMCID:
PMC6796492
AbstractArticlePDF–4.1M
16.
A BioID-Derived Proximity Interactome for SARS-CoV-2 Proteins
Danielle G. May, Laura Martin-Sancho, Valesca Anschau, Sophie Liu, Rachel J. Chrisopulos, Kelsey L. Scott, Charles T. Halfmann, Ramon Díaz Peña, Dexter Pratt, Alexandre R. Campos, Kyle J. Roux
Viruses. 2022 Mar; 14(3): 611. Published online 2022 Mar 15. doi: 10.3390/v14030611
PMCID:
PMC8951556
AbstractArticlePDF–4.4M
17.
Systematic bromodomain protein screens identify homologous recombination and R-loop suppression pathways involved in genome integrity
Jae Jin Kim, Seo Yun Lee, Fade Gong, Anna M. Battenhouse, Daniel R. Boutz, Aarti Bashyal, Samantha T. Refvik, Cheng-Ming Chiang, Blerta Xhemalce, Tanya T. Paull, Jennifer S. Brodbelt, Edward M. Marcotte, Kyle M. Miller
Genes Dev. 2019 Dec 1; 33(23-24): 1751–1774. doi: 10.1101/gad.331231.119
PMCID:
PMC6942044
AbstractArticlePDF–10M
18.
Cross-linking mass spectrometry discovers, evaluates, and corroborates structures and protein–protein interactions in the human cell
Tara K. Bartolec, Xabier Vázquez-Campos, Alexander Norman, Clement Luong, Marcus Johnson, Richard J. Payne, Marc R. Wilkins, Joel P. Mackay, Jason K. K. Low
Proc Natl Acad Sci U S A. 2023 Apr 25; 120(17): e2219418120. Published online 2023 Apr 18. doi: 10.1073/pnas.2219418120
PMCID:
PMC10151615
AbstractArticlePDF–2.9M
19.
Personalized Smoking Cessation: Interactions between Nicotine Dose, Dependence and Quit-Success Genotype Score
Jed E Rose, Frédérique M Behm, Tomas Drgon, Catherine Johnson, George R Uhl
Mol Med. 2010 Jul-Aug; 16(7-8): 247–253. Published online 2010 Mar 17. doi: 10.2119/molmed.2009.00159
Correction in:
Mol Med. 2012; 18(1): 729.
PMCID:
PMC2896464
AbstractArticlePDF–2.4M
20.
Diversification of transcriptional modulation: Large-scale identification and characterization of putative alternative promoters of human genes
Kouichi Kimura, Ai Wakamatsu, Yutaka Suzuki, Toshio Ota, Tetsuo Nishikawa, Riu Yamashita, Jun-ichi Yamamoto, Mitsuo Sekine, Katsuki Tsuritani, Hiroyuki Wakaguri, Shizuko Ishii, Tomoyasu Sugiyama, Kaoru Saito, Yuko Isono, Ryotaro Irie, Norihiro Kushida, Takahiro Yoneyama, Rie Otsuka, Katsuhiro Kanda, Takahide Yokoi, Hiroshi Kondo, Masako Wagatsuma, Katsuji Murakawa, Shinichi Ishida, Tadashi Ishibashi, Asako Takahashi-Fujii, Tomoo Tanase, Keiichi Nagai, Hisashi Kikuchi, Kenta Nakai, Takao Isogai, Sumio Sugano
Genome Res. 2006 Jan; 16(1): 55–65. doi: 10.1101/gr.4039406
PMCID:
PMC1356129
AbstractArticlePDF–438K

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Filter your results:

Find related data

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
You are here: NCBI > Literature > PubMed Central (PMC)
Support Center