PMC Articles for MedGen (Select 356331) - PMC

Select item 69478391.

Case report: targeted whole exome sequencing enables the first prenatal diagnosis of the lethal skeletal dysplasia Osteocraniostenosis

Lara Pemberton, Robert Barker, Anna Cockell, Vijaya Ramachandran, Andrea Haworth, Tessa Homfray

BMC Med Genet. 2020; 21: 7. Published online 2020 Jan 7. doi: 10.1186/s12881-019-0939-z

PMCID:: PMC6947839

Abstract Article PDF–420K

Select item 10501242.

Osteocraniostenosis.

A Verloes, F Narcy, B Grattagliano, A L Delezoide, P Guibaud, J P Schaaps, M Le Merrer, P Maroteaux

J Med Genet. 1994 Oct; 31(10): 772–778. doi: 10.1136/jmg.31.10.772

PMCID:: PMC1050124

Summary Page Browse PDF–3.0M

Select item 104388823.

Expanding the Phenotypic Spectrum of Kenny–Caffey Syndrome

Heidi Schigt, Martin Bald, Bram C J van der Eerden, Lars Gal, Barnabas P Ilenwabor, Martin Konrad, Michael A Levine, Dong Li, Christoph J Mache, Sharon Mackin, Colin Perry, Francisco J Rios, Karl Peter Schlingmann, Ben Storey, Christine M Trapp, Annemieke J M H Verkerk, M Carola Zillikens, Rhian M Touyz, Ewout J Hoorn, Joost G J Hoenderop, Jeroen H F de Baaij

J Clin Endocrinol Metab. 2023 Sep; 108(9): e754–e768. Published online 2023 Mar 14. doi: 10.1210/clinem/dgad147

Correction in:: J Clin Endocrinol Metab. 2023 Jul; 108(7): e501.

PMCID:: PMC10438882

Abstract Article

Select item 88717554.

Clinical and Molecular Diagnosis of Osteocraniostenosis in Fetuses and Newborns: Prenatal Ultrasound, Clinical, Radiological and Pathological Features

Simonetta Rosato, Sheila Unger, Belinda Campos-Xavier, Stefano Giuseppe Caraffi, Laura Beltrami, Marzia Pollazzon, Ivan Ivanovski, Marco Castori, Maria Paola Bonasoni, Giuseppina Comitini, Peter G. J. Nikkels, Kristin Lindstrom, Christine Umandap, Andrea Superti-Furga, Livia Garavelli

Genes (Basel) 2022 Feb; 13(2): 261. Published online 2022 Jan 28. doi: 10.3390/genes13020261

PMCID:: PMC8871755

Abstract Article PDF–3.6M

Select item 75346405.

FAM111 protease activity undermines cellular fitness and is amplified by gain‐of‐function mutations in human disease

Saskia Hoffmann, Satyakrishna Pentakota, Andreas Mund, Peter Haahr, Fabian Coscia, Marta Gallo, Matthias Mann, Nicholas MI Taylor, Niels Mailand

EMBO Rep. 2020 Oct 5; 21(10): e50662. Published online 2020 Aug 9. doi: 10.15252/embr.202050662

PMCID:: PMC7534640

Abstract Article PDF–15M

Select item 109319376.

Unravelling the Intricate Roles of FAM111A and FAM111B: From Protease-Mediated Cellular Processes to Disease Implications

Danielle Naicker, Cenza Rhoda, Falone Sunda, Afolake Arowolo

Int J Mol Sci. 2024 Mar; 25(5): 2845. Published online 2024 Feb 29. doi: 10.3390/ijms25052845

PMCID:: PMC10931937

Abstract Article PDF–1.7M

Select item 62883447.

Contribution of DNA Replication to the FAM111A-Mediated Simian Virus 40 Host Range Phenotype

Roxana M. Tarnita, Adrian R. Wilkie, James A. DeCaprio

J Virol. 2019 Jan 1; 93(1): e01330-18. Prepublished online 2018 Oct 17. Published online 2018 Dec 10. doi: 10.1128/JVI.01330-18

PMCID:: PMC6288344

Abstract Article PDF–1.8M

Select item 36752388.

FAM111A Mutations Result in Hypoparathyroidism and Impaired Skeletal Development

Sheila Unger, Maria W. Górna, Antony Le Béchec, Sonia Do Vale-Pereira, Maria Francesca Bedeschi, Stefan Geiberger, Giedre Grigelioniene, Eva Horemuzova, Faustina Lalatta, Ekkehart Lausch, Cinzia Magnani, Sheela Nampoothiri, Gen Nishimura, Duccio Petrella, Francisca Rojas-Ringeling, Akari Utsunomiya, Bernhard Zabel, Sylvain Pradervand, Keith Harshman, Belinda Campos-Xavier, Luisa Bonafé, Giulio Superti-Furga, Brian Stevenson, Andrea Superti-Furga

Am J Hum Genet. 2013 Jun 6; 92(6): 990–995. doi: 10.1016/j.ajhg.2013.04.020

PMCID:: PMC3675238

Abstract Article PDF–790K

Select item 110656939.

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

Select item 997616510.

Compound Heterozygous Variants in FAM111A Cause Autosomal Recessive Kenny-Caffey Syndrome Type 2

Erdal Eren, Havva Tezcan Ünlü, Serdar Ceylaner, Ömer Tarım

J Clin Res Pediatr Endocrinol. 2023 Mar; 15(1): 97–102. Published online 2023 Feb 27. doi: 10.4274/jcrpe.galenos.2021.2020.0315

PMCID:: PMC9976165

Abstract Article PDF–1.1M

Select item 979829311.

Functions and evolution of FAM111 serine proteases

Allison L. Welter, Yuichi J. Machida

Front Mol Biosci. 2022; 9: 1081166. Published online 2022 Dec 15. doi: 10.3389/fmolb.2022.1081166

PMCID:: PMC9798293

Abstract Article PDF–1.9M

Select item 860695812.

The role of calcium-sensing receptor signaling in regulating transepithelial calcium transport

Rebecca Siu Ga Tan, Christy Hui Lin Lee, Henrik Dimke, R Todd Alexander

Exp Biol Med (Maywood) 2021 Nov; 246(22): 2407–2419. Published online 2021 Apr 29. doi: 10.1177/15353702211010415

PMCID:: PMC8606958

Abstract Article PDF–982K

Select item 785742413.

FAM111A induces nuclear dysfunction in disease and viral restriction

Minghua Nie, Martina Oravcová, Yasaman Jami‐Alahmadi, James A Wohlschlegel, Eros Lazzerini‐Denchi, Michael N Boddy

EMBO Rep. 2021 Feb 3; 22(2): e50803. Published online 2020 Dec 28. doi: 10.15252/embr.202050803

PMCID:: PMC7857424

Abstract Article PDF–2.9M

Select item 495925314.

Non-Invasive Prenatal Diagnosis of Lethal Skeletal Dysplasia by Targeted Capture Sequencing of Maternal Plasma

Shan Dan, Yuan Yuan, Yaoshen Wang, Chao Chen, Changxin Gao, Song Yu, Yan Liu, Wei Song, Asan, Hongmei Zhu, Ling Yang, Hongmei Deng, Yue Su, Xin Yi

PLoS One. 2016; 11(7): e0159355. Published online 2016 Jul 19. doi: 10.1371/journal.pone.0159355

PMCID:: PMC4959253

Abstract Article PDF–1.2M

Select item 330919515.

Bent Bone Dysplasia-FGFR2 type, a Distinct Skeletal Disorder, Has Deficient Canonical FGF Signaling

Amy E. Merrill, Anna Sarukhanov, Pavel Krejci, Brian Idoni, Natalia Camacho, Kristine D. Estrada, Karen M. Lyons, Hannah Deixler, Haynes Robinson, David Chitayat, Cynthia J. Curry, Ralph S. Lachman, William R. Wilcox, Deborah Krakow

Am J Hum Genet. 2012 Mar 9; 90(3): 550–557. doi: 10.1016/j.ajhg.2012.02.005

PMCID:: PMC3309195

Abstract Article PDF–1.5M

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