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 MedGen

Items: 1 to 20 of 500

1.
Whole genome sequencing identifies associations for nonsyndromic sagittal craniosynostosis with the intergenic region of BMP2 and noncoding RNA gene LINC01428
Anthony M. Musolf, Cristina M. Justice, Zeynep Erdogan-Yildirim, Seppe Goovaerts, Araceli Cuellar, John R. Shaffer, Mary L. Marazita, Peter Claes, Seth M. Weinberg, Jae Li, Craig Senders, Marike Zwienenberg, Emil Simeonov, Radka Kaneva, Tony Roscioli, Lorena Di Pietro, Marta Barba, Wanda Lattanzi, Michael L. Cunningham, Paul A. Romitti, Simeon A. Boyadjiev
Sci Rep. 2024; 14: 8533. Published online 2024 Apr 12. doi: 10.1038/s41598-024-58343-w
PMCID:
PMC11014861
ArticlePDF–1.4M
2.
Homozygous SMAD6 variants in two unrelated patients with craniosynostosis and radioulnar synostosis
Ilse Luyckx, Isaac Scott Walton, Nele Boeckx, Kristof Van Schil, Chingyiu Pang, Mania De Praeter, Helen Lord, Christopher Mark Watson, David T Bonthron, Lut Van Laer, Andrew O M Wilkie, Bart Loeys
J Med Genet. 2024 Apr; 61(4): 363–368. Published online 2024 Jan 30. doi: 10.1136/jmg-2023-109151
PMCID:
PMC10982635
ArticlePDF–828K
3.
Expansion of the complex genotypic and phenotypic spectrum of FGFR2-associated neurocutaneous syndromes
Julia Schmidt, Silke Kaulfuß, Hagen Ott, Marianne Gaubert, Nadine Reintjes, Felix Bremmer, Steffi Dreha-Kulaczewski, Philipp Stroebel, Gökhan Yigit, Bernd Wollnik
Hum Genet. 2024; 143(2): 159–168. Published online 2024 Jan 24. doi: 10.1007/s00439-023-02634-1
PMCID:
PMC10881730
ArticlePDF–2.5M
4.
Periostin/Bone Morphogenetic Protein 1 axis axis regulates proliferation and osteogenic differentiation of sutured mesenchymal stem cells and affects coronal suture closure in the TWIST1+/− mouse model of craniosynostosis
ShuBin Feng, Qiang Feng, LiuJian Dong, Qiang Lv, ShiYue Mei, YaoDong Zhang
J Orthop Surg Res. 2024; 19: 146. Published online 2024 Feb 19. doi: 10.1186/s13018-024-04604-3
PMCID:
PMC10875791
ArticlePDF–8.2M
5.
Piezo1 agonist restores meningeal lymphatic vessels, drainage, and brain-CSF perfusion in craniosynostosis and aged mice
Matt J. Matrongolo, Phillip S. Ang, Junbing Wu, Aditya Jain, Joshua K. Thackray, Akash Reddy, Chi Chang Sung, Gaëtan Barbet, Young-Kwon Hong, Max A. Tischfield
J Clin Invest. 2024 Feb 15; 134(4): e171468. Published online 2023 Nov 2. doi: 10.1172/JCI171468
PMCID:
PMC10866656
ArticlePDF–20M
6.
A multi-stem cell basis for craniosynostosis and calvarial mineralization
Seoyeon Bok, Alisha R. Yallowitz, Jun Sun, Jason McCormick, Michelle Cung, Lingling Hu, Sarfaraz Lalani, Zan Li, Branden R. Sosa, Tomas Baumgartner, Paul Byrne, Tuo Zhang, Kyle W. Morse, Fatma F. Mohamed, Chunxi Ge, Renny T. Franceschi, Randy T. Cowling, Barry H. Greenberg, David J. Pisapia, Thomas A. Imahiyerobo, Jr, Shenela Lakhani, M. Elizabeth Ross, Caitlin E. Hoffman, Shawon Debnath, Matthew B. Greenblatt
Nature. Author manuscript; available in PMC 2024 Mar 20.
Published in final edited form as: Nature. 2023 Sep; 621(7980): 804–812. Published online 2023 Sep 20. doi: 10.1038/s41586-023-06526-2
PMCID:
PMC10799660
ArticlePDF–15M
7.
Concurrent impact of de novo mutations on cranial and cortical development in nonsyndromic craniosynostosis
Emre Kiziltug, Phan Q. Duy, Garrett Allington, Andrew T. Timberlake, Riki Kawaguchi, Aaron S. Long, Mariana N. Almeida, Michael L. DiLuna, Seth L. Alper, Michael Alperovich, Daniel H. Geschwind, Kristopher T. Kahle
J Neurosurg Pediatr. 2023 Oct 27 : 2023.8.PEDS23155. Published online 2023 Oct 27. doi: 10.3171/2023.8.PEDS23155
PMCID:
PMC10783441
ArticlePDF–22M
8.
The Human GP130 Cytokine Receptor and Its Expression—an Atlas and Functional Taxonomy of Genetic Variants
Yin-Huai Chen, Sarah van Zon, Alex Adams, Dirk Schmidt-Arras, Arian D. J. Laurence, Holm H. Uhlig
J Clin Immunol. 2024; 44(1): 30. Published online 2023 Dec 22. doi: 10.1007/s10875-023-01603-7
PMCID:
PMC10746620
ArticlePDF–1.5M
9.
Ribosome biogenesis controls cranial suture MSC fate via the complement pathway in mouse and human iPSC models
Supawadee Jariyasakulroj, Wei Zhang, Jianhui Bai, Minjie Zhang, Zhipeng Lu, Jian-Fu Chen
Stem Cell Reports. 2023 Dec 12; 18(12): 2370–2385. Published online 2023 Nov 16. doi: 10.1016/j.stemcr.2023.10.015
PMCID:
PMC10724072
ArticlePDF–8.5M
10.
Joint multi-ancestry and admixed GWAS reveals the complex genetics behind human cranial vault shape
Seppe Goovaerts, Hanne Hoskens, Ryan J. Eller, Noah Herrick, Anthony M. Musolf, Cristina M. Justice, Meng Yuan, Sahin Naqvi, Myoung Keun Lee, Dirk Vandermeulen, Heather L. Szabo-Rogers, Paul A. Romitti, Simeon A. Boyadjiev, Mary L. Marazita, John R. Shaffer, Mark D. Shriver, Joanna Wysocka, Susan Walsh, Seth M. Weinberg, Peter Claes
Nat Commun. 2023; 14: 7436. Published online 2023 Nov 16. doi: 10.1038/s41467-023-43237-8
PMCID:
PMC10654897
ArticlePDF–3.5M
11.
CYP26B1-related disorder: expanding the ends of the spectrum through clinical and molecular evidence
Karina C. Silveira, Inara Chacon Fonseca, Connor Oborn, Parker Wengryn, Saima Ghafoor, Alexander Beke, Ema S. Dreseris, Cassandra Wong, Aline Iacovone, Carrie-Lynn Soltys, Riyana Babul-Hirji, Osvaldo Artigalas, Arthur Antolini-Tavares, Anne-Claude Gingras, Eric Campos, Denise P. Cavalcanti, Peter Kannu
Hum Genet. 2023; 142(11): 1571–1586. Published online 2023 Sep 27. doi: 10.1007/s00439-023-02598-2
PMCID:
PMC10602971
ArticlePDF–4.1M
12.
Rare IFT140-Associated Phenotype of Cranioectodermal Dysplasia and Features of Diagnostic Journey in Patients with Suspected Ciliopathies
Margarita Sharova, Tatyana Markova, Maria Sumina, Marina Petukhova, Maria Bulakh, Oxana Ryzhkova, Tatyana Nagornova, Sofya Ionova, Andrey Marakhonov, Elena Dadali, Sergey Kutsev
Genes (Basel) 2023 Aug; 14(8): 1553. Published online 2023 Jul 28. doi: 10.3390/genes14081553
PMCID:
PMC10454909
ArticlePDF–1.2M
13.
The interleukin-11 receptor variant p.W307R results in craniosynostosis in humans
Ilyas Ahmad, Juliane Lokau, Birte Kespohl, Naveed Altaf Malik, Shahid Mahmood Baig, Roland Hartig, Daniel Behme, Roland Schwab, Janine Altmüller, Muhammad Jameel, Sören Mucha, Holger Thiele, Muhammad Tariq, Peter Nürnberg, Jeanette Erdmann, Christoph Garbers
Sci Rep. 2023; 13: 13479. Published online 2023 Aug 18. doi: 10.1038/s41598-023-39466-y
PMCID:
PMC10439179
ArticlePDF–4.2M
14.
A Twist-Box domain of the C. elegans Twist homolog, HLH-8, plays a complex role in transcriptional regulation
Michael J Gruss, Colleen O’Callaghan, Molly Donnellan, Ann K Corsi
Genetics. 2023 Aug; 224(4): iyad066. Published online 2023 Apr 17. doi: 10.1093/genetics/iyad066
PMCID:
PMC10411555
ArticlePDF–1.5M
15.
成纤维细胞生长因子8调控骨发育和稳态的研究进展
宏灿 黄, 洁雅 魏, 德茂 张, 学东 周
Sichuan Da Xue Xue Bao Yi Xue Ban. 2022 Jan 20; 53(1): 54–57. Chinese. doi: 10.12182/20220160509
PMCID:
PMC10408843
ArticlePDF–488K
16.
The expanding genetic and clinical landscape associated with Meier-Gorlin syndrome
Emily Nielsen-Dandoroff, Mischa S. G. Ruegg, Louise S. Bicknell
Eur J Hum Genet. 2023 Aug; 31(8): 859–868. Published online 2023 Apr 14. doi: 10.1038/s41431-023-01359-z
PMCID:
PMC10400559
ArticlePDF–1.8M
17.
Dog breeds and conformations in the UK in 2019: VetCompass canine demography and some consequent welfare implications
Dan G. O’Neill, Kirsten M. McMillan, David B. Church, Dave C. Brodbelt
PLoS One. 2023; 18(7): e0288081. Published online 2023 Jul 26. doi: 10.1371/journal.pone.0288081
PMCID:
PMC10370710
ArticlePDF–1.1M
18.
Craniosynostosis, inner ear, and renal anomalies in a child with complete loss of SPRY1 (sprouty homolog 1) function
Rebecca S Tooze, Eduardo Calpena, Stephen R F Twigg, Felice D’Arco, The Genomics England Research Consortium, Emma L Wakeling, Andrew O M Wilkie
J Med Genet. 2023 Jul; 60(7): 712–716. Published online 2022 Dec 21. doi: 10.1136/jmg-2022-108946
PMCID:
PMC10359576
ArticlePDF–884K
19.
Bone mineral density loci specific to the skull portray potential pleiotropic effects on craniosynostosis
Carolina Medina-Gomez, Benjamin H. Mullin, Alessandra Chesi, Vid Prijatelj, John P. Kemp, Chen Shochat-Carvalho, Katerina Trajanoska, Carol Wang, Raimo Joro, Tavia E. Evans, Katharina E. Schraut, Ruifang Li-Gao, Tarunveer S. Ahluwalia, M. Carola Zillikens, Kun Zhu, Dennis O. Mook-Kanamori, Daniel S. Evans, Maria Nethander, Maria J. Knol, Gudmar Thorleifsson, Ivana Prokic, Babette Zemel, Linda Broer, Fiona E. McGuigan, Natasja M. van Schoor, Sjur Reppe, Mikolaj A. Pawlak, Stuart H. Ralston, Nathalie van der Velde, Mattias Lorentzon, Kari Stefansson, Hieab H. H. Adams, Scott G. Wilson, M. Arfan Ikram, John P. Walsh, Timo A. Lakka, Kaare M. Gautvik, James F. Wilson, Eric S. Orwoll, Cornelia M. van Duijn, Klaus Bønnelykke, Andre G. Uitterlinden, Unnur Styrkársdóttir, Kristina E. Akesson, Timothy D. Spector, Jonathan H. Tobias, Claes Ohlsson, Janine F. Felix, Hans Bisgaard, Struan F. A. Grant, J. Brent Richards, David M. Evans, Bram van der Eerden, Jeroen van de Peppel, Cheryl Ackert-Bicknell, David Karasik, Erika Kague, Fernando Rivadeneira
Commun Biol. 2023; 6: 691. Published online 2023 Jul 4. doi: 10.1038/s42003-023-04869-0
PMCID:
PMC10319806
ArticlePDF–4.7M
20.
Differential gene expression in the calvarial and cortical bone of juvenile female mice
Jerome Nicolas Janssen, Rotem Kalev-Altman, Tali Shalit, Dalit Sela-Donenfeld, Efrat Monsonego-Ornan
Front Endocrinol (Lausanne) 2023; 14: 1127536. Published online 2023 Jun 12. doi: 10.3389/fendo.2023.1127536
PMCID:
PMC10291685
ArticlePDF–6.5M

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Filter your results:

Find related data

Recent activity

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