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Select item 111054171.

Adamts17 is involved in skeletogenesis through modulation of BMP-Smad1/5/8 pathway

Takeshi Oichi, Yuki Taniguchi, Kazuhito Soma, Yasushi Oshima, Fumiko Yano, Yoshifumi Mori, Ryota Chijimatsu, Joo-ri Kim-Kaneyama, Sakae Tanaka, Taku Saito

Cell Mol Life Sci. 2019 Dec; 76(23): 4795–4809. Published online 2019 Jun 14. doi: 10.1007/s00018-019-03188-0

Correction in:: Cell Mol Life Sci. 2019 Dec; 76(23): 4811–4812.

PMCID:: PMC11105417

Abstract Article PDF–6.4M

Select item 81750562.

Weill-Marchesani Syndrome, a Rare Presentation of Severe Short Stature with Review of the Literature

Mossa N.A. Al Motawa, Manal S.S. Al Shehri, Majed J. Al Buali, Amnah A.M. Al Agnam

Am J Case Rep. 2021; 22: e930824-1–e930824-8. Published online 2021 May 31. doi: 10.12659/AJCR.930824

PMCID:: PMC8175056

Abstract Article PDF–2.2M

Select item 73317233.

A novel pathogenic missense ADAMTS17 variant that impairs secretion causes Weill-Marchesani Syndrome with variably dysmorphic hand features

Daniel R. Evans, Jane S. Green, Somayyeh Fahiminiya, Jacek Majewski, Bridget A. Fernandez, Matthew A. Deardorff, Gordon J. Johnson, James H. Whelan, Dirk Hubmacher, Suneel S. Apte, Care4Rare Canada Consortium, Michael O. Woods

Sci Rep. 2020; 10: 10827. Published online 2020 Jul 2. doi: 10.1038/s41598-020-66978-8

PMCID:: PMC7331723

Abstract Article PDF–1.5M

Select item 52969084.

Unusual life cycle and impact on microfibril assembly of ADAMTS17, a secreted metalloprotease mutated in genetic eye disease

Dirk Hubmacher, Michael Schneider, Steven J. Berardinelli, Hideyuki Takeuchi, Belinda Willard, Dieter P. Reinhardt, Robert S. Haltiwanger, Suneel S. Apte

Sci Rep. 2017; 7: 41871. Published online 2017 Feb 8. doi: 10.1038/srep41871

PMCID:: PMC5296908

Abstract Article PDF–4.9M

Select item 45381985.

Identification and molecular characterisation of a homozygous missense mutation in the ADAMTS10 gene in a patient with Weill–Marchesani syndrome

Hannes Steinkellner, Julia Etzler, Laura Gogoll, Jürgen Neesen, Eva Stifter, Oliver Brandau, Franco Laccone

Eur J Hum Genet. 2015 Sep; 23(9): 1186–1191. Published online 2014 Dec 3. doi: 10.1038/ejhg.2014.264

PMCID:: PMC4538198

Abstract Article PDF–1.1M

Select item 40572486.

Whole exome sequencing identifies a novel splice-site mutation in ADAMTS17 in an Indian family with Weill-Marchesani syndrome

Mohd Hussain Shah, Vishwanath Bhat, Jyoti S. Shetty, Arun Kumar

Mol Vis. 2014; 20: 790–796. Published online 2014 Jun 12.

PMCID:: PMC4057248

Abstract Article PDF–533K

Select item 38296337.

Missense Mutations in FBN1 Exons 41 and 42 Cause Weill-Marchesani Syndrome with Thoracic Aortic Disease and Marfan Syndrome

Alana Cecchi, Naomi Ogawa, Hugo R. Martinez, Alicia Carlson, Yuxin Fan, Daniel J. Penny, Dong-chuan Guo, Steven Eisenberg, Hazim Safi, Anthony Estrera, Richard A. Lewis, Deborah Meyers, Dianna M. Milewicz

Am J Med Genet A. Author manuscript; available in PMC 2014 Sep 1.

Published in final edited form as: Am J Med Genet A. 2013 Sep; 161(9): 10.1002/ajmg.a.36044. Published online 2013 Jul 29. doi: 10.1002/ajmg.a.36044

PMCID:: PMC3829633

Abstract Article PDF–333K

Select item 34877588.

Fibrillin-1 Mutations Causing Weill-Marchesani Syndrome and Acromicric and Geleophysic Dysplasias Disrupt Heparan Sulfate Interactions

Stuart A. Cain, Amanda McGovern, Andrew K. Baldwin, Clair Baldock, Cay M. Kielty

PLoS One. 2012; 7(11): e48634. Published online 2012 Nov 2. doi: 10.1371/journal.pone.0048634

PMCID:: PMC3487758

Abstract Article PDF–2.9M

Select item 32522779.

Microenvironmental Regulation by Fibrillin-1

Gerhard Sengle, Ko Tsutsui, Douglas R. Keene, Sara F. Tufa, Eric J. Carlson, Noe L. Charbonneau, Robert N. Ono, Takako Sasaki, Mary K. Wirtz, John R. Samples, Liselotte I. Fessler, John H. Fessler, Kiyotoshi Sekiguchi, Susan J. Hayflick, Lynn Y. Sakai

PLoS Genet. 2012 Jan; 8(1): e1002425. Published online 2012 Jan 5. doi: 10.1371/journal.pgen.1002425

PMCID:: PMC3252277

Abstract Article PDF–3.1M

Select item 1040450210.

Construction and application of high-quality genome-scale metabolic model of Zymomonas mobilis to guide rational design of microbial cell factories

Yalun Wu, Qianqian Yuan, Yongfu Yang, Defei Liu, Shihui Yang, Hongwu Ma

Synth Syst Biotechnol. 2023 Sep; 8(3): 498–508. Published online 2023 Jul 6. doi: 10.1016/j.synbio.2023.07.001

PMCID:: PMC10404502

Abstract Article PDF–6.0M

Select item 943504211.

Mineralogy of Bioprecipitate Evolution over Induction Times Mediated by Halophilic Bacteria under Various Mg/Ca Molar Ratios

Zuozhen Han, Dan Li, Yanyang Zhao, Jiajia Wang, Na Guo, Huaxiao Yan, Chao Han, Qiang Li, Maurice E. Tucker

ACS Omega. 2022 Aug 30; 7(34): 29755–29772. Published online 2022 Aug 18. doi: 10.1021/acsomega.2c02443

PMCID:: PMC9435042

Abstract Article PDF–4.9M

Select item 792120812.

Acromelic dysplasias: how rare musculoskeletal disorders reveal biological functions of extracellular matrix proteins

Sarah Stanley, Zerina Balic, Dirk Hubmacher

Ann N Y Acad Sci. Author manuscript; available in PMC 2022 Apr 1.

Published in final edited form as: Ann N Y Acad Sci. 2021 Apr; 1490(1): 57–76. Published online 2020 Sep 2. doi: 10.1111/nyas.14465

PMCID:: PMC7921208

Abstract Article PDF–1.3M

Select item 1124625213.

Exome sequencing (ES) of a pediatric cohort with chronic endocrine diseases: a single-center study (within the framework of the TRANSLATE-NAMSE project)

Sebastian Gippert, Matias Wagner, Theresa Brunet, Riccardo Berruti, Melanie Brugger, Eva M. C. Schwaibold, Tobias B. Haack, Georg F. Hoffmann, Markus Bettendorf, Daniela Choukair

Endocrine. 2024; 85(1): 444–453. Published online 2023 Nov 8. doi: 10.1007/s12020-023-03581-7

PMCID:: PMC11246252

Abstract Article PDF–953K

Select item 1124417514.

From Klinefelter Syndrome to High Grade Aneuploidies: Expanding the Gene-dosage Effect of Supernumerary X Chromosomes

Matteo Spaziani, Francesco Carlomagno, Chiara Tarantino, Francesco Angelini, Roberto Paparella, Luigi Tarani, Carolina Putotto, Roberto Badagliacca, Carlotta Pozza, Andrea M Isidori, Daniele Gianfrilli

J Clin Endocrinol Metab. 2024 Aug; 109(8): e1564–e1573. Published online 2024 Jan 9. doi: 10.1210/clinem/dgad730

Correction in:: J Clin Endocrinol Metab. 2024 Aug; 109(8): e1687.

PMCID:: PMC11244175

Abstract Article

Select item 1121986215.

A second hotspot for pathogenic exon-skipping variants in CDC45

Kelly Schoch, Mischa S. G. Ruegg, Bridget J. Fellows, Joseph Cao, Sabine Uhrig, Stephanie Einsele-Scholz, Saskia Biskup, Samuel R. A. Hawarden, Vincenzo Salpietro, Valeria Capra, Undiagnosed Diseases Network, Chris M. Brown, Andrea Accogli, Vandana Shashi, Louise S. Bicknell

Eur J Hum Genet. 2024 Jul; 32(7): 786–794. Published online 2024 Mar 11. doi: 10.1038/s41431-024-01583-1

PMCID:: PMC11219862

Abstract Article PDF–2.2M

Select item 1115351516.

Identification of the DNA methylation signature of Mowat-Wilson syndrome

Stefano Giuseppe Caraffi, Liselot van der Laan, Kathleen Rooney, Slavica Trajkova, Roberta Zuntini, Raissa Relator, Sadegheh Haghshenas, Michael A. Levy, Chiara Baldo, Giorgia Mandrile, Carolyn Lauzon, Duccio Maria Cordelli, Ivan Ivanovski, Anna Fetta, Elena Sukarova, Alfredo Brusco, Lisa Pavinato, Verdiana Pullano, Marcella Zollino, Haley McConkey, Marco Tartaglia, Giovanni Battista Ferrero, Bekim Sadikovic, Livia Garavelli

Eur J Hum Genet. 2024 Jun; 32(6): 619–629. Published online 2024 Feb 13. doi: 10.1038/s41431-024-01548-4

PMCID:: PMC11153515

Abstract Article PDF–3.6M

Select item 1109563217.

Neurodevelopmental defects in a mouse model of O-GlcNAc transferase intellectual disability

Florence Authier, Nina Ondruskova, Andrew T. Ferenbach, Alison D. McNeilly, Daan M. F. van Aalten

Dis Model Mech. 2024 Apr 1; 17(4): dmm050671. Published online 2024 Apr 25. doi: 10.1242/dmm.050671

PMCID:: PMC11095632

Abstract Article

Select item 1107774718.

Novel 14q32.2 paternal deletion encompassing the whole DLK1 gene associated with Temple syndrome

Neus Baena, David Monk, Cinthia Aguilera, Mario F. Fraga, Agustín F. Fernández, Elisabeth Gabau, Raquel Corripio, Nuria Capdevila, Juan Pablo Trujillo, Anna Ruiz, Miriam Guitart

Clin Epigenetics. 2024; 16: 62. Published online 2024 May 7. doi: 10.1186/s13148-024-01652-8

PMCID:: PMC11077747

Abstract Article PDF–1.4M

Select item 1106810619.

Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome

Stephanie Efthymiou, Marcello Scala, Vini Nagaraj, Katarzyna Ochenkowska, Fenne L Komdeur, Robin A Liang, Mohamed S Abdel-Hamid, Tipu Sultan, Tuva Barøy, Marijke Van Ghelue, Barbara Vona, Reza Maroofian, Faisal Zafar, Fowzan S Alkuraya, Maha S Zaki, Mariasavina Severino, Kingsley C Duru, Robert C Tryon, Lin Vigdis Brauteset, Morad Ansari, Mark Hamilton, Mieke M van Haelst, Gijs van Haaften, Federico Zara, Henry Houlden, Éric Samarut, Colin G Nichols, Marie F Smeland, Conor McClenaghan

Brain. 2024 May; 147(5): 1822–1836. Published online 2024 Jan 13. doi: 10.1093/brain/awae010

PMCID:: PMC11068106

Abstract Article PDF–1.0M

Select item 1106569320.

Disruption of the c‐terminal serine protease domain of Fam111a does not alter calcium homeostasis in mice

Rebecca Siu Ga Tan, Christy Hui Lin Lee, Wanling Pan, Serene Wohlgemuth, Michael R. Doschak, R. Todd Alexander

Physiol Rep. 2024 May; 12(9): e15977. Published online 2024 May 2. doi: 10.14814/phy2.15977

PMCID:: PMC11065693

Abstract Article PDF–6.9M

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PMC Articles for MedGen (Select 358388) (500)
PMC
Conserved Domain Links for Gene (Select 554093) (1)
Conserved Domains
Chilina sp. MNB 104.550 cytochrome c oxidase subunit I gene, partial cds; mitoch...
Chilina sp. MNB 104.550 cytochrome c oxidase subunit I gene, partial cds; mitochondrial
gi|152004163|gb|EF489382.1|

Nucleotide
Homo sapiens heparan sulfate 6-O-sulfotransferase 1 (HS6ST1), mRNA
Homo sapiens heparan sulfate 6-O-sulfotransferase 1 (HS6ST1), mRNA
gi|1519241666|ref|NM_004807.3|

Nucleotide
Danio rerio MIS12 kinetochore complex component (mis12), mRNA
Danio rerio MIS12 kinetochore complex component (mis12), mRNA
gi|41055204|ref|NM_200378.1|

Nucleotide

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