PMC Links for Books (Select 4499290) - PMC

Select item 93144841.

Variation among DNA banking consent forms: points for clinicians to bank on

Samuel J. Huang, Laura M. Amendola, Darci L. Sternen

J Community Genet. 2022 Aug; 13(4): 389–397. Published online 2022 Jul 14. doi: 10.1007/s12687-022-00601-3

PMCID:: PMC9314484

Select item 72120822.

An SCN9A channelopathy causes congenital inability to experience pain

James J. Cox, Frank Reimann, Adeline K. Nicholas, Gemma Thornton, Emma Roberts, Kelly Springell, Gulshan Karbani, Hussain Jafri, Jovaria Mannan, Yasmin Raashid, Lihadh Al-Gazali, Henan Hamamy, Enza Maria Valente, Shaun Gorman, Richard Williams, Duncan P. McHale, John N. Wood, Fiona M. Gribble, C. Geoffrey Woods

Nature. Author manuscript; available in PMC 2020 May 11.

Published in final edited form as: Nature. 2006 Dec 14; 444(7121): 894–898. doi: 10.1038/nature05413

PMCID:: PMC7212082

Article PDF–1.3M

Select item 72120473.

Transcriptional regulator PRDM12 is essential for human pain perception

Ya-Chun Chen, Michaela Auer-Grumbach, Shinya Matsukawa, Manuela Zitzelsberger, Andreas C Themistocleous, Tim M Strom, Chrysanthi Samara, Adrian W Moore, Lily Ting-Yin Cho, Gareth T Young, Caecilia Weiss, Maria Schabhüttl, Rolf Stucka, Annina B Schmid, Yesim Parman, Luitgard Graul-Neumann, Wolfram Heinritz, Eberhard Passarge, Rosemarie M Watson, Jens Michael Hertz, Ute Moog, Manuela Baumgartner, Enza Maria Valente, Diego Pereira, Carlos M Restrepo, Istvan Katona, Marina Dusl, Claudia Stendel, Thomas Wieland, Fay Stafford, Frank Reimann, Katja von Au, Christian Finke, Patrick J Willems, Michael S Nahorski, Samiha S Shaikh, Ofélia P Carvalho, Adeline K Nicholas, Gulshan Karbani, Maeve A McAleer, Maria Roberta Cilio, John C McHugh, Sinead M Murphy, Alan D Irvine, Uffe Birk Jensen, Reinhard Windhager, Joachim Weis, Carsten Bergmann, Bernd Rautenstrauss, Jonathan Baets, Peter De Jonghe, Mary M Reilly, Regina Kropatsch, Ingo Kurth, Roman Chrast, Tatsuo Michiue, David L H Bennett, C Geoffrey Woods, Jan Senderek

Nat Genet. Author manuscript; available in PMC 2020 May 11.

Published in final edited form as: Nat Genet. 2015 Jul 1; 47(7): 803–808. Published online 2015 May 25. doi: 10.1038/ng.3308

Correction in:: Nat Genet. 2015 Aug; 47(8): 962.

PMCID:: PMC7212047

Article PDF–1.8M

Select item 62079634.

A third HSAN5 mutation disrupts the nerve growth factor furin cleavage site

Samiha S Shaikh, Michael S Nahorski, C Geoffrey Woods

Mol Pain. 2018; 14: 1744806918809223. Published online 2018 Oct 8. doi: 10.1177/1744806918809223

PMCID:: PMC6207963

Article PDF–713K

Select item 58373935.

A novel human pain insensitivity disorder caused by a point mutation in ZFHX2

Abdella M Habib, Ayako Matsuyama, Andrei L Okorokov, Sonia Santana-Varela, Jose T Bras, Anna Maria Aloisi, Edward C Emery, Yury D Bogdanov, Maryne Follenfant, Sam J Gossage, Mathilde Gras, Jack Humphrey, Anna Kolesnikov, Kim Le Cann, Shengnan Li, Michael S Minett, Vanessa Pereira, Clara Ponsolles, Shafaq Sikandar, Jesus M Torres, Kenji Yamaoka, Jing Zhao, Yuriko Komine, Tetsuo Yamamori, Nikolas Maniatis, Konstantin I Panov, Henry Houlden, Juan D Ramirez, David L H Bennett, Letizia Marsili, Valeria Bachiocco, John N Wood, James J Cox

Brain. 2018 Feb; 141(2): 365–376. Published online 2017 Dec 14. doi: 10.1093/brain/awx326

PMCID:: PMC5837393

Article PDF–911K

Select item 54907606.

Sodium channel Na_V1.9 mutations associated with insensitivity to pain dampen neuronal excitability

Jianying Huang, Carlos G. Vanoye, Alison Cutts, Y. Paul Goldberg, Sulayman D. Dib-Hajj, Charles J. Cohen, Stephen G. Waxman, Alfred L. George, Jr.

J Clin Invest. 2017 Jun 30; 127(7): 2805–2814. Published online 2017 May 22. doi: 10.1172/JCI92373

PMCID:: PMC5490760

Article PDF–635K

Select item 49758127.

Clinical features for diagnosis and management of patients with PRDM12 congenital insensitivity to pain

Stella Zhang, Saghira Malik Sharif, Ya-Chun Chen, Enza-Maria Valente, Mushtaq Ahmed, Eamonn Sheridan, Christopher Bennett, Geoffrey Woods

J Med Genet. 2016 Aug; 53(8): 533–535. Published online 2016 Mar 14. doi: 10.1136/jmedgenet-2015-103646

PMCID:: PMC4975812

Article PDF–307K

Select item 47558258.

Congenital Insensitivity To Pain: Fracturing Without Apparent Skeletal Pathobiology Caused By An Autosomal Dominant, Second Mutation in SCN11A Encoding Voltage-Gated Sodium Channel 1.9

Voraluck Phatarakijnirund, Steven Mumm, William H. McAlister, Deborah Novack, Deborah Wenkert, Karen L. Clements, Michael P. Whyte

Bone. Author manuscript; available in PMC 2017 Mar 1.

Published in final edited form as: Bone. 2016 Mar; 84: 289–298. Published online 2015 Dec 31. doi: 10.1016/j.bone.2015.11.022

PMCID:: PMC4755825

Article PDF–690K

Select item 47319259.

Timing, rates and spectra of human germline mutation

Raheleh Rahbari, Arthur Wuster, Sarah J. Lindsay, Robert J. Hardwick, Ludmil B. Alexandrov, Saeed Al Turki, Anna Dominiczak, Andrew Morris, David Porteous, Blair Smith, Michael R. Stratton, UK10K Consortium, Matthew E. Hurles

Nat Genet. Author manuscript; available in PMC 2016 Jun 14.

Published in final edited form as: Nat Genet. 2016 Feb; 48(2): 126–133. Published online 2015 Dec 14. doi: 10.1038/ng.3469

PMCID:: PMC4731925

Article PDF–1.6M

Select item 468686810.

Endogenous opioids contribute to insensitivity to pain in humans and mice lacking sodium channel Na_v1.7

Michael S. Minett, Vanessa Pereira, Shafaq Sikandar, Ayako Matsuyama, Stéphane Lolignier, Alexandros H. Kanellopoulos, Flavia Mancini, Gian D. Iannetti, Yury D. Bogdanov, Sonia Santana-Varela, Queensta Millet, Giorgios Baskozos, Raymond MacAllister, James J. Cox, Jing Zhao, John N. Wood

Nat Commun. 2015; 6: 8967. Published online 2015 Dec 4. doi: 10.1038/ncomms9967

PMCID:: PMC4686868

Article PDF–860K

Select item 467000011.

Case Report: Neuropathic pain in a patient with congenital insensitivity to pain

Daniel W. Wheeler, Michael C.H. Lee, E. Katherine Harrison, David K. Menon, C. Geoffrey Woods

Version 2. F1000Res. 2014; 3: 135. Published online 2015 Jun 19. doi: 10.12688/f1000research.2642.2

PMCID:: PMC4670000

Article PDF–907K

Select item 454475312.

Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W. Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector, Karl Voelkerding, Heidi L. Rehm

Genet Med. Author manuscript; available in PMC 2015 Nov 1.

Published in final edited form as: Genet Med. 2015 May; 17(5): 405–424. Published online 2015 Mar 5. doi: 10.1038/gim.2015.30

PMCID:: PMC4544753

Article PDF–960K

Select item 451186013.

A novel disorder reveals clathrin heavy chain-22 is essential for human pain and touch development

Michael S. Nahorski, Lihadh Al-Gazali, Jozef Hertecant, David J. Owen, Georg H. H. Borner, Ya-Chun Chen, Caroline L. Benn, Ofélia P. Carvalho, Samiha S. Shaikh, Anne Phelan, Margaret S. Robinson, Stephen J. Royle, C. Geoffrey Woods

Brain. 2015 Aug; 138(8): 2147–2160. Published online 2015 Jun 11. doi: 10.1093/brain/awv149

PMCID:: PMC4511860

Article PDF–1.6M

Select item 440263914.

The phenotype of congenital insensitivity to pain due to the Na_V1.9 variant p.L811P

Christopher Geoffrey Woods, Mohamed Osman Eltahir Babiker, Iain Horrocks, John Tolmie, Ingo Kurth

Eur J Hum Genet. 2015 May; 23(5): 561–563. Published online 2014 Aug 13. doi: 10.1038/ejhg.2014.166

Correction in:: Eur J Hum Genet. 2015 Oct; 23(10): 1434.

PMCID:: PMC4402639

Article PDF–206K

Select item 371581415.

Leg length discrepancy in patients with slipped capital femoral epiphysis: 85 patients followed for mean 6 years

Seung-Ju Kim, Tamir Bloom, Sanjeev Sabharwal

Acta Orthop. 2013 Jun; 84(3): 271–274. Published online 2013 May 31. doi: 10.3109/17453674.2013.795103

PMCID:: PMC3715814

Article PDF–342K

Select item 367449716.

Loss-of-function mutations in sodium channel Na_v1.7 cause anosmia

Jan Weiss, Martina Pyrski, Eric Jacobi, Bernd Bufe, Vivienne Willnecker, Bernhard Schick, Philippe Zizzari, Samuel J. Gossage, Charles A. Greer, Trese Leinders-Zufall, C. Geoffrey Woods, John N. Wood, Frank Zufall

Nature. Author manuscript; available in PMC 2013 Jun 6.

Published in final edited form as: Nature. 2011 Apr 14; 472(7342): 186–190. Published online 2011 Mar 23. doi: 10.1038/nature09975

PMCID:: PMC3674497

Article PDF–2.4M

Select item 356410117.

Congenital Insensitivity to Pain and Anhydrosis (CIPA) Syndrome; A Report of 4 Cases

Khadije Daneshjou, Hanieh Jafarieh, Seyed-Reza Raaeskarami

Iran J Pediatr. 2012 Sep; 22(3): 412–416.

PMCID:: PMC3564101

Article PDF–354K

Select item 303077618.

A novel NGF mutation clarifies the molecular mechanism and extends the phenotypic spectrum of the HSAN5 neuropathy

Ofélia P Carvalho, Gemma K Thornton, Joseph Hertecant, Henry Houlden, Adeline K Nicholas, James J Cox, Mary Rielly, Lihadh Al-Gazali, C Geoffrey Woods

J Med Genet. 2011 Feb; 48(2): 131–135. Published online 2010 Oct 26. doi: 10.1136/jmg.2010.081455

PMCID:: PMC3030776

Article PDF–529K

Select item 296686319.

Congenital Insensitivity to Pain: Novel SCN9A Missense and In-Frame Deletion Mutations

James J Cox, Jony Sheynin, Zamir Shorer, Frank Reimann, Adeline K Nicholas, Lorena Zubovic, Marco Baralle, Elizabeth Wraige, Esther Manor, Jacov Levy, C Geoffery Woods, Ruti Parvari

Hum Mutat. 2010 Sep; 31(9): 1670–1686. doi: 10.1002/humu.21325

PMCID:: PMC2966863

Article PDF–879K

Select item 258857420.

Quantitative Real-Time PCR detection of TRPV1–4 gene expression in human leukocytes from healthy and hyposensitive subjects

Giacomo Spinsanti, Raffaella Zannolli, Cristina Panti, Ilaria Ceccarelli, Letizia Marsili, Valeria Bachiocco, Francesco Frati, Anna Maria Aloisi

Mol Pain. 2008; 4: 51. Published online 2008 Nov 4. doi: 10.1186/1744-8069-4-51

PMCID:: PMC2588574

Article PDF–573K

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