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Select item 108598401.

Exploring Adaptive Phenotypes for the Human Calcium-Sensing Receptor Polymorphism R990G

Barbara Sinigaglia, Jorge Escudero, Simone A Biagini, Jorge Garcia-Calleja, Josep Moreno, Begoña Dobon, Sandra Acosta, Mayukh Mondal, Sandra Walsh, Gabriela Aguileta, Mònica Vallès, Stephen Forrow, Juan Martin-Caballero, Andrea Bamberg Migliano, Jaume Bertranpetit, Francisco J Muñoz, Elena Bosch

Mol Biol Evol. 2024 Feb; 41(2): msae015. Published online 2024 Jan 29. doi: 10.1093/molbev/msae015

PMCID:: PMC10859840

Article PDF–826K

Select item 103413412.

Development of Woolly Hair and Hairlessness in a CRISPR−Engineered Mutant Mouse Model with KRT71 Mutations

Tao Zhang, Hongwu Yao, Hejun Wang, Tingting Sui

Cells. 2023 Jul; 12(13): 1781. Published online 2023 Jul 5. doi: 10.3390/cells12131781

PMCID:: PMC10341341

Article PDF–2.7M

Select item 93220083.

Functional investigation of two simultaneous or separately segregating DSP variants within a single family supports the theory of a dose‐dependent disease severity

Mathilde C. S. C. Vermeer, Daniela Andrei, Duco Kramer, Albertine M. Nijenhuis, Yvonne M. Hoedemaekers, Helga Westers, Jan D. H. Jongbloed, Hendri H. Pas, Maarten P. van den Berg, Herman H. W. Silljé, Peter van der Meer, Maria C. Bolling

Exp Dermatol. 2022 Jun; 31(6): 970–979. Published online 2022 Apr 1. doi: 10.1111/exd.14571

PMCID:: PMC9322008

Article PDF–25M

Select item 91999934.

Carvajal Syndrome- A Variant of Naxos Disease: A Case Report

Krishna Deo Mandal, Pun Narayan Shrestha, Anjila Ghimire, Prakash Joshi, Sumit Agrawal, Prapti Shrestha

JNMA J Nepal Med Assoc. 2022 Feb; 60(246): 187–191. Published online 2022 Feb 28. doi: 10.31729/jnma.7102

PMCID:: PMC9199993

Article PDF–1.6M

Select item 90070785.

Tricho-hepato-enteric syndrome: Retrospective multicenter experience in Saudi Arabia

Badr M. Alsaleem, Mohammed Hasosah, Amna Basheer M. Ahmed, Maher M. Al Hatlani, Aziz Helal Alanazi, Abdulrahman Al-Hussaini, Ali T. Asery, Khalid A. Alghamdi, Muhanad M. AlRuwaithi, Musa Ali M. Khormi, Ahmed Al Sarkhy, Ali S. Alshamrani

Saudi J Gastroenterol. 2022 Mar-Apr; 28(2): 135–142. Published online 2021 Aug 16. doi: 10.4103/sjg.sjg_200_21

PMCID:: PMC9007078

Article PDF–716K

Select item 73643666.

Association of Topical Minoxidil With Autosomal Recessive Woolly Hair/Hypotrichosis Caused by LIPH Pathogenic Variants

Tomoki Taki, Kana Tanahashi, Takuya Takeichi, Takenori Yoshikawa, Yuya Murase, Kazumitsu Sugiura, Masashi Akiyama

JAMA Dermatol. 2020 Oct; 156(10): 1030–1032. Published online 2020 Jul 15. doi: 10.1001/jamadermatol.2020.2195

PMCID:: PMC7364366

Article

Select item 68868017.

Autosomal-dominant hypotrichosis with woolly hair: Novel gene locus on chromosome 4q35.1-q35.2

Annika E. Schlaweck, Rachid Tazi-Ahnini, F. Buket Ü. Basmanav, Javed Mohungoo, Sandra M. Pasternack-Ziach, Manuel Mattheisen, Ana-Maria Oprisoreanu, Aytaj Humbatova, Sabrina Wolf, Andrew Messenger, Regina C. Betz

PLoS One. 2019; 14(12): e0225943. Published online 2019 Dec 2. doi: 10.1371/journal.pone.0225943

PMCID:: PMC6886801

Article PDF–1.3M

Select item 65934148.

A case of woolly hair nevus, multiple linear pigmentation, and epidermal nevi with somatic HRAS p.G12S mutation

Katsuhiko Nishihara, Mikiko Tohyama, Akiharu Kubo

Pediatr Dermatol. 2019 May-Jun; 36(3): 368–371. Published online 2019 Mar 12. doi: 10.1111/pde.13783

PMCID:: PMC6593414

Article PDF–976K

Select item 63180139.

Loss of function desmoplakin I and II mutations underlie dominant arrhythmogenic cardiomyopathy with a hair and skin phenotype

T. Maruthappu, A. Posafalvi, S. Castelletti, P.J. Delaney, P. Syrris, E.A. O’Toole, K.J. Green, P.M. Elliott, P.D. Lambiase, A. Tinker, W.J. McKenna, D.P. Kelsell

Br J Dermatol. Author manuscript; available in PMC 2020 May 1.

Published in final edited form as: Br J Dermatol. 2019 May; 180(5): 1114–1122. Published online 2019 Jan 2. doi: 10.1111/bjd.17388

PMCID:: PMC6318013

Article PDF–1.5M

Select item 594643810.

Naxos disease: from the origin to today

Guo-Liang Li, Ardan M. Saguner, Guy H. Fontaine

Orphanet J Rare Dis. 2018; 13: 74. Published online 2018 May 10. doi: 10.1186/s13023-018-0814-6

PMCID:: PMC5946438

Article PDF–4.4M

Select item 570482211.

Tricho-hepato-enteric syndrome with novel SKIV2L gene mutations: A case report

Eitaro Hiejima, Takahiro Yasumi, Hiroshi Nakase, Minoru Matsuura, Yusuke Honzawa, Hirokazu Higuchi, Ikuo Okafuji, Tohru Yorifuji, Takayuki Tanaka, Kazushi Izawa, Tomoki Kawai, Ryuta Nishikomori, Toshio Heike

Medicine (Baltimore) 2017 Nov; 96(46): e8601. Published online 2017 Nov 17. doi: 10.1097/MD.0000000000008601

PMCID:: PMC5704822

Article PDF–26M

Select item 566751212.

Clinical spectrum of woolly hair: indications for cerebral involvement

Piero Pavone, Raffaele Falsaperla, Massimo Barbagallo, Agata Polizzi, Andrea D. Praticò, Martino Ruggieri

Ital J Pediatr. 2017; 43: 99. Published online 2017 Nov 2. doi: 10.1186/s13052-017-0417-1

PMCID:: PMC5667512

Article PDF–2.1M

Select item 535121413.

Exome sequencing identifies a novel TTC37 mutation in the first reported case of Trichohepatoenteric syndrome (THE-S) in South Africa

Craig Kinnear, Brigitte Glanzmann, Eric Banda, Nikola Schlechter, Glenda Durrheim, Annika Neethling, Etienne Nel, Mardelle Schoeman, Glynis Johnson, Paul D. van Helden, Eileen G. Hoal, Monika Esser, Michael Urban, Marlo Möller

BMC Med Genet. 2017; 18: 26. Published online 2017 Mar 14. doi: 10.1186/s12881-017-0388-5

PMCID:: PMC5351214

Article PDF–1.2M

Select item 509025814.

A homozygous missense variant in type I keratin KRT25 causes autosomal recessive woolly hair

Muhammad Ansar, Syed Irfan Raza, Kwanghyuk Lee, Irfanullah, Shamim Shahi, Anushree Acharya, Hang Dai, Joshua D Smith, University of Washington Center for Mendelian Genomics, Jay Shendure, Michael J Bamshad, Deborah A Nickerson, Regie Lyn P Santos-Cortez, Wasim Ahmad, Suzanne M Leal

J Med Genet. Author manuscript; available in PMC 2016 Nov 2.

Published in final edited form as: J Med Genet. 2015 Oct; 52(10): 676–680. Published online 2015 Jul 9. doi: 10.1136/jmedgenet-2015-103255

PMCID:: PMC5090258

Article PDF–462K

Select item 481887915.

Arrhythmogenic cardiomyopathy

Kalliopi Pilichou, Gaetano Thiene, Barbara Bauce, Ilaria Rigato, Elisabetta Lazzarini, Federico Migliore, Martina Perazzolo Marra, Stefania Rizzo, Alessandro Zorzi, Luciano Daliento, Domenico Corrado, Cristina Basso

Orphanet J Rare Dis. 2016; 11: 33. Published online 2016 Apr 2. doi: 10.1186/s13023-016-0407-1

PMCID:: PMC4818879

Article PDF–1.6M

Select item 448327216.

A Novel Locus for Ectodermal Dysplasia of Hair, Nail and Skin Pigmentation Anomalies Maps to Chromosome 18p11.32-p11.31

Rabia Habib, Muhammad Ansar, Manuel Mattheisen, Muhammad Shahid, Ghazanfar Ali, Wasim Ahmad, Regina C. Betz

PLoS One. 2015; 10(6): e0129811. Published online 2015 Jun 26. doi: 10.1371/journal.pone.0129811

PMCID:: PMC4483272

Article PDF–810K

Select item 438877817.

Dsp^rul: A spontaneous mouse mutation in Desmoplakin as a model of Carvajal-Huerta Syndrome

C. Herbert Pratt, Christopher S. Potter, Heather Fairfield, Laura G. Reinholdt, David E. Bergstrom, Belinda S. Harris, Ian Greenstein, Soheil S. Dadras, Bruce T. Liang, Paul N. Schofield, John P. Sundberg

Exp Mol Pathol. Author manuscript; available in PMC 2016 Apr 1.

Published in final edited form as: Exp Mol Pathol. 2015 Apr; 98(2): 164–172. Published online 2015 Feb 7. doi: 10.1016/j.yexmp.2015.01.015

PMCID:: PMC4388778

Article PDF–1.0M

Select item 429631318.

Broken Hearts, Woolly Hair, and Tattered Skin: When Desmosomal Adhesion Goes Awry

Hisham Bazzi, Angela M. Christiano

Curr Opin Cell Biol. Author manuscript; available in PMC 2015 Jan 16.

Published in final edited form as: Curr Opin Cell Biol. 2007 Oct; 19(5): 515–520. Published online 2007 Oct 24. doi: 10.1016/j.ceb.2007.08.001

PMCID:: PMC4296313

Article PDF–248K

Select item 429631219.

Mutations in LPAR6/P2RY5 and LIPH are associated with woolly hair and/or hypotrichosis

Mazen Kurban, Muhammad Wajid, Yutaka Shimomura, Angela M. Christiano

J Eur Acad Dermatol Venereol. Author manuscript; available in PMC 2015 Jan 16.

Published in final edited form as: J Eur Acad Dermatol Venereol. 2013 May; 27(5): 545–549. Published online 2012 Mar 5. doi: 10.1111/j.1468-3083.2012.04472.x

PMCID:: PMC4296312

Article PDF–709K

Select item 424650720.

Compound Heterozygous Desmoplakin Mutations Result in a Phenotype with a Combination of Myocardial, Skin, Hair, and Enamel Abnormalities

Mỹ G. Mahoney, Sara Sadowski, Donna Brennan, Pekka Pikander, Pekka Saukko, James Wahl, Heikki Aho, Kristiina Heikinheimo, Leena Bruckner-Tuderman, Andrzej Fertala, Juha Peltonen, Jouni Uitto, Sirkku Peltonen

J Invest Dermatol. Author manuscript; available in PMC 2014 Nov 28.

Published in final edited form as: J Invest Dermatol. 2010 Apr; 130(4): 968–978. Published online 2009 Nov 19. doi: 10.1038/jid.2009.357

PMCID:: PMC4246507

Article PDF–1.4M

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