PMC Articles for MedGen (Select 342370) - PMC

Cecilie F. Rustad, Paul Hoff Backe, Chunsheng Jin, Else Merckoll, Kristian Tveten, Marissa Lucy Maciej‐Hulme, Niclas Karlsson, Trine Prescott, Elise Sandås Sand, Berit Woldseth, Katja Benedikte Prestø Elgstøen, Øystein L. Holla

Mol Genet Genomic Med. 2024 Jun; 12(6): e2472. Published online 2024 Jun 11. doi: 10.1002/mgg3.2472

PMCID:: PMC11165340

Article PDF–6.0M

Select item 106453995.

Insulin-Like Growth Factor-I Is Essential for Embryonic Bone Development

Yongmei Wang, Shigeki Nishida, Takeshi Sakata, Hashem Z. Elalieh, Wenhan Chang, Bernard P. Halloran, Steven B. Doty, Daniel D. Bikle

Endocrinology. Author manuscript; available in PMC 2023 Nov 14.

Published in final edited form as: Endocrinology. 2006 Oct; 147(10): 4753–4761. Published online 2006 Jul 20. doi: 10.1210/en.2006-0196

PMCID:: PMC10645399

Article PDF–2.8M

Select item 102308366.

M. Bondarenko, I. Haiboniuk, I. Solovei, Y. Shargorodska, H. Makukh

Balkan J Med Genet. 2023 May; 25(2): 83–90. Published online 2023 May 2. doi: 10.2478/bjmg-2022-0018

PMCID:: PMC10230836

Article PDF–901K

Select item 98673557.

Curcumin Reduces Pathological Endoplasmic Reticulum Stress through Increasing Proteolysis of Mutant Matrilin-3

Ella P. Dennis, Robyn N. Watson, Florence McPate, Michael D. Briggs

Int J Mol Sci. 2023 Jan; 24(2): 1496. Published online 2023 Jan 12. doi: 10.3390/ijms24021496

PMCID:: PMC9867355

Article PDF–1.9M

Select item 96816888.

Megacolon as a Feature of Suspected Robinow Syndrome

Zachary M Waarala, Rijul S Maini, Paul Kowalski, William McMillan, Loro L Kujjo

Cureus. 2022 Oct; 14(10): e30663. Published online 2022 Oct 25. doi: 10.7759/cureus.30663

PMCID:: PMC9681688

Article PDF–3.1M

Select item 92050869.

A registry of achondroplasia: a 6-year experience from the Czechia and Slovak Republic

Martin Pesl, Hana Verescakova, Linda Skutkova, Jana Strenkova, Pavel Krejci

Orphanet J Rare Dis. 2022; 17: 229. Published online 2022 Jun 16. doi: 10.1186/s13023-022-02374-x

PMCID:: PMC9205086

Article PDF–858K

Select item 917763610.

Phenotypic and mutational spectrum of ROR2-related Robinow syndrome

Ariadne R. Lima, Barbara M. Ferreira, Chaofan Zhang, Angad Jolly, Haowei Du, Janson J. White, Moez Dawood, Tulio C. Lins, Marcela A. Chiabai, Ellen van Beusekom, Mara S. Cordoba, Erica C.C. Caldas Rosa, Hulya Kayserili, Virginia Kimonis, Erica Wu, Cecilia Mellado, Vineet Aggarwal, Antonio Richieri-Costa, Décio Brunoni, Talyta M. Canó, Alexander A. L. Jorge, Chong A. Kim, Rachel Honjo, Débora R. Bertola, Raissa M. Dandalo-Girardi, Yavuz Bayram, Alper Gezdirici, Elif Yilmaz-Gulec, Evren Gumus, Gülay C. Yilmaz, Nobuhiko Okamoto, Hirofumi Ohashi, Zeynep Coban–Akdemir, Tadahiro Mitani, Shalini N. Jhangiani, Donna M. Muzny, Neysa A.P. Regattieri, Robert Pogue, Rinaldo W. Pereira, Paulo A. Otto, Richard A. Gibbs, Bassam R. Ali, Hans van Bokhoven, Han G. Brunner, V. Reid Sutton, James R. Lupski, Angela M. Vianna-Morgante, Claudia M. B. Carvalho, Juliana F. Mazzeu

Hum Mutat. Author manuscript; available in PMC 2023 Jul 1.

Published in final edited form as: Hum Mutat. 2022 Jul; 43(7): 900–918. Published online 2022 May 10. doi: 10.1002/humu.24375

PMCID:: PMC9177636

Article PDF–2.3M

Select item 886198011.

Longitudinal Imaging of the Skull Base Synchondroses Demonstrate Prevention of a Premature Ossification After Recifercept Treatment in Mouse Model of Achondroplasia

Guylene Rignol, Stephanie Garcia, Florence Authier, Kaamula Smith, Lionel Tosello, Raphael Marsault, Pierre Dellugat, Diogo Goncalves, Marlene Brouillard, Jeffrey Stavenhagen, Luca Santarelli, Christian Czech, Elvire Gouze

JBMR Plus. 2022 Feb; 6(2): e10568. Published online 2021 Nov 9. doi: 10.1002/jbm4.10568

PMCID:: PMC8861980

Article PDF–2.3M

Select item 851984212.

Canine DVL2 variant contributes to brachycephalic phenotype and caudal vertebral anomalies

Julia E. Niskanen, Vilma Reunanen, Milla Salonen, Danika Bannasch, Anu K. Lappalainen, Hannes Lohi, Marjo K. Hytönen

Hum Genet. 2021; 140(11): 1535–1545. Published online 2021 Feb 18. doi: 10.1007/s00439-021-02261-8

PMCID:: PMC8519842

Article PDF–1.9M

Select item 826229613.

Prevention of guanylyl cyclase–B dephosphorylation rescues achondroplastic dwarfism

Brandon M. Wagner, Jerid W. Robinson, Yun-Wen Lin, Yi-Ching Lee, Nabil Kaci, Laurence Legeai-Mallet, Lincoln R. Potter

JCI Insight. 2021 May 10; 6(9): e147832. Published online 2021 May 10. doi: 10.1172/jci.insight.147832

PMCID:: PMC8262296

Article PDF–5.6M

Select item 823315314.

Peters plus syndrome mutations affect the function and stability of human β1,3-glucosyltransferase

Ao Zhang, Aarya Venkat, Rahil Taujale, James L. Mull, Atsuko Ito, Natarajan Kannan, Robert S. Haltiwanger

J Biol Chem. 2021 Jul; 297(1): 100843. Published online 2021 May 28. doi: 10.1016/j.jbc.2021.100843

PMCID:: PMC8233153

Article PDF–1.5M

Select item 815117015.

SLC26A2-Associated Diastrophic Dysplasia and rMED—Clinical Features in Affected Finnish Children and Review of the Literature

Helmi Härkönen, Petra Loid, Outi Mäkitie

Genes (Basel) 2021 May; 12(5): 714. Published online 2021 May 11. doi: 10.3390/genes12050714

PMCID:: PMC8151170

Article PDF–457K

Select item 800846016.

Radiographic findings of Desbuquois dysplasia

Meltem Özdemir, Rasime Pelin Kavak

BJR Case Rep. 2021 Apr 1; 7(2): 20200137. Published online 2020 Nov 2. doi: 10.1259/bjrcr.20200137

PMCID:: PMC8008460

Article PDF–1.1M

Select item 770846817.

Evaluation of FGFR inhibitor ASP5878 as a drug candidate for achondroplasia

Tomonori Ozaki, Tatsuya Kawamoto, Yuki Iimori, Nobuaki Takeshita, Yukiko Yamagishi, Hiroaki Nakamura, Masazumi Kamohara, Kaori Fujita, Masayuki Tanahashi, Noriyuki Tsumaki

Sci Rep. 2020; 10: 20915. Published online 2020 Dec 1. doi: 10.1038/s41598-020-77345-y

PMCID:: PMC7708468

Article PDF–5.4M

Select item 713617018.

Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia

Dieter Haffner, Francesco Emma, Deborah M. Eastwood, Martin Biosse Duplan, Justine Bacchetta, Dirk Schnabel, Philippe Wicart, Detlef Bockenhauer, Fernando Santos, Elena Levtchenko, Pol Harvengt, Martha Kirchhoff, Federico Di Rocco, Catherine Chaussain, Maria Louisa Brandi, Lars Savendahl, Karine Briot, Peter Kamenicky, Lars Rejnmark, Agnès Linglart

Nat Rev Nephrol. 2019; 15(7): 435–455. Published online 2019 May 8. doi: 10.1038/s41581-019-0152-5

PMCID:: PMC7136170

Article PDF–1.5M

Select item 705710019.

Severe achondroplasia due to two de novo variants in the transmembrane domain of FGFR3 on the same allele: A case report

Tadashi Nagata, Masaki Matsushita, Kenichi Mishima, Yasunari Kamiya, Kohji Kato, Miho Toyama, Tomoo Ogi, Naoki Ishiguro, Hiroshi Kitoh

Mol Genet Genomic Med. 2020 Mar; 8(3): e1148. Published online 2020 Jan 23. doi: 10.1002/mgg3.1148

PMCID:: PMC7057100

Article PDF–701K

Select item 685472120.

Obesity in achondroplasia patients: from evidence to medical monitoring

Celine Saint-Laurent, Laura Garde-Etayo, Elvire Gouze

Orphanet J Rare Dis. 2019; 14: 253. Published online 2019 Nov 14. doi: 10.1186/s13023-019-1247-6

PMCID:: PMC6854721

Article PDF–556K

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