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Select item 41680201.

The effect of two endogenous retinoids on the mRNA expression profile in human primary keratinocytes, focusing on genes causing autosomal recessive congenital ichthyosis

H. Törmä, A. Bergström, G. Ghiasifarahani, B. Berne

Arch Dermatol Res. 2014; 306(8): 739–747. Published online 2014 Jun 13. doi: 10.1007/s00403-014-1476-4

PMCID:: PMC4168020

Abstract Article PDF–262K

Select item 35854842.

Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS

Donna M McDonald-McGinn, Somayyeh Fahiminiya, Timothée Revil, Beata A Nowakowska, Joshua Suhl, Alice Bailey, Elisabeth Mlynarski, David R Lynch, Albert C Yan, Larissa T Bilaniuk, Kathleen E Sullivan, Stephen T Warren, Beverly S Emanuel, Joris R Vermeesch, Elaine H Zackai, Loydie A Jerome-Majewska

J Med Genet. 2013 Feb; 50(2): 80–90. Published online 2012 Dec 11. doi: 10.1136/jmedgenet-2012-101320

PMCID:: PMC3585484

Abstract Article PDF–497K

Select item 36750293.

Mutations in CERS3 Cause Autosomal Recessive Congenital Ichthyosis in Humans

Franz P. W. Radner, Slaheddine Marrakchi, Peter Kirchmeier, Gwang-Jin Kim, Florence Ribierre, Bourane Kamoun, Leila Abid, Michael Leipoldt, Hamida Turki, Werner Schempp, Roland Heilig, Mark Lathrop, Judith Fischer

PLoS Genet. 2013 Jun; 9(6): e1003536. Published online 2013 Jun 6. doi: 10.1371/journal.pgen.1003536

Correction in:: PLoS Genet. 2013 Jun; 9(6): 10.1371/annotation/df5af830-8e1d-495a-a206-f881ed85e7fe.

PMCID:: PMC3675029

Abstract Article PDF–11M

Select item 36851744.

Comèl-Netherton syndrome – defined as primary immunodeficiency

Ellen D Renner, Dominik Hartl, Stacey Rylaarsdam, Marguerite L Young, Linda Monaco-Shawver, Gary Kleiner, M Louise Markert, E Richard Stiehm, Bernd H Belohradsky, Melissa P. Upton, Troy R Torgerson, Jordan S Orange, Hans D Ochs

J Allergy Clin Immunol. Author manuscript; available in PMC 2013 Jun 18.

Published in final edited form as: J Allergy Clin Immunol. 2009 Sep; 124(3): 536–543. Published online 2009 Aug 14. doi: 10.1016/j.jaci.2009.06.009

Correction in:: volume 124 on page 1318

PMCID:: PMC3685174

Abstract Article PDF–1007K

Select item 37461105.

Associations Among Genotype, Clinical Phenotype, and Intracellular Localization of Trafficking Proteins in ARC Syndrome

Holly Smith, Romain Galmes, Ekaterina Gogolina, Anna Straatman-Iwanowska, Kim Reay, Blerida Banushi, Christopher K Bruce, Andrew R Cullinane, Rene Romero, Richard Chang, Oanez Ackermann, Clarisse Baumann, Hakan Cangul, Fatma Cakmak Celik, Canan Aygun, Richard Coward, Carlo Dionisi-Vici, Barbara Sibbles, Carol Inward, Chong Ae Kim, Judith Klumperman, A S Knisely, Steven P Watson, Paul Gissen

Hum Mutat. 2012 Dec; 33(12): 1656–1664. Published online 2012 Jul 2. doi: 10.1002/humu.22155

PMCID:: PMC3746110

Abstract Article PDF–494K

Select item 37939786.

Distinguishing Ichthyoses by Protein Profiling

Robert H. Rice, Katie M. Bradshaw, Blythe P. Durbin-Johnson, David M. Rocke, Richard A. Eigenheer, Brett S. Phinney, Matthias Schmuth, Robert Gruber

PLoS One. 2013; 8(10): e75355. Published online 2013 Oct 9. doi: 10.1371/journal.pone.0075355

PMCID:: PMC3793978

Abstract Article PDF–1.8M

Select item 38393407.

Mutations in Transglutaminase 1 Gene in Autosomal Recessive Congenital Ichthyosis in Egyptian Families

R. M. Shawky, N.S. Sayed, N.A. Elhawary

Dis Markers. 2004; 20(6): 325–332. Published online 2005 Jan 18. doi: 10.1155/2004/965968

PMCID:: PMC3839340

Summary PDF–63K

Select item 39256768.

Matriptase regulates proliferation and early, but not terminal, differentiation of human keratinocytes

Ya-Wen Chen, Jehng-Kang Wang, Fen-Pai Chou, Bai-Yao Wu, Hui-Chung Hsiao, Han Chiu, Zhonghong Xu, Adrienne NH Baksh, Galen Shi, Malvika Kaul, Robert Barndt, Victoria K. Shanmugam, Michael D. Johnson, Chen-Yong Lin

J Invest Dermatol. Author manuscript; available in PMC 2014 Aug 1.

Published in final edited form as: J Invest Dermatol. 2014 Feb; 134(2): 405–414. Published online 2013 Jul 26. doi: 10.1038/jid.2013.320

PMCID:: PMC3925676

Abstract Article PDF–1.0M

Select item 41109069.

Visual Detection of Single-Base Mismatches in DNA Using Hairpin Oligonucleotide with Double-Target DNA Binding Sequences and Gold Nanoparticles

Yuqing He, Xibao Zhang, Sanquan Zhang, Mak Ka Long Kris, Fong Chi Man, Guodong Liu

Biosens Bioelectron. Author manuscript; available in PMC 2014 Jul 25.

Published in final edited form as: Biosens Bioelectron. 2012 Apr 15; 34(1): 37–43. Published online 2012 Feb 10. doi: 10.1016/j.bios.2011.12.055

PMCID:: PMC4110906

Abstract Article PDF–546K

Select item 412147910.

Neu-Laxova Syndrome, an Inborn Error of Serine Metabolism, Is Caused by Mutations in PHGDH

Ranad Shaheen, Zuhair Rahbeeni, Amal Alhashem, Eissa Faqeih, Qi Zhao, Yong Xiong, Agaadir Almoisheer, Sarah M. Al-Qattan, Halima A. Almadani, Noufa Al-Onazi, Badi S. Al-Baqawi, Mohammad Ali Saleh, Fowzan S. Alkuraya

Am J Hum Genet. 2014 Jun 5; 94(6): 898–904. doi: 10.1016/j.ajhg.2014.04.015

PMCID:: PMC4121479

Abstract Article PDF–1.6M

Select item 414256511.

A Novel Mutation in the Transglutaminase-1 Gene in an Autosomal Recessive Congenital Ichthyosis Patient

D. Vaigundan, Neha V. Kalmankar, J. Krishnappa, N. Yellappa Gowda, A. V. M. Kutty, Patnam R. Krishnaswamy

Biomed Res Int. 2014; 2014: 706827. Published online 2014 Aug 10. doi: 10.1155/2014/706827

PMCID:: PMC4142565

Abstract Article PDF–2.2M

Select item 415714412.

Neu-Laxova Syndrome Is a Heterogeneous Metabolic Disorder Caused by Defects in Enzymes of the L-Serine Biosynthesis Pathway

Rocio Acuna-Hidalgo, Denny Schanze, Ariana Kariminejad, Ann Nordgren, Mohamad Hasan Kariminejad, Peter Conner, Giedre Grigelioniene, Daniel Nilsson, Magnus Nordenskjöld, Anna Wedell, Christoph Freyer, Anna Wredenberg, Dagmar Wieczorek, Gabriele Gillessen-Kaesbach, Hülya Kayserili, Nursel Elcioglu, Siavash Ghaderi-Sohi, Payman Goodarzi, Hamidreza Setayesh, Maartje van de Vorst, Marloes Steehouwer, Rolph Pfundt, Birgit Krabichler, Cynthia Curry, Malcolm G. MacKenzie, Kym M. Boycott, Christian Gilissen, Andreas R. Janecke, Alexander Hoischen, Martin Zenker

Am J Hum Genet. 2014 Sep 4; 95(3): 285–293. doi: 10.1016/j.ajhg.2014.07.012

PMCID:: PMC4157144

Abstract Article PDF–1.5M

Select item 356395113.

Congenital lamellar ichthyosis in Tunisia is caused by a founder nonsense mutation in the TGM1 gene

Nacim Louhichi, Ikhlass Hadjsalem, Slaheddine Marrakchi, Fatma Trabelsi, Abderrahmen Masmoudi, Hamida Turki, Faiza Fakhfakh

Mol Biol Rep. 2013; 40(3): 2527–2532. Published online 2012 Nov 29. doi: 10.1007/s11033-012-2333-1

PMCID:: PMC3563951

Abstract Article PDF–443K

Select item 442213814.

Arthrogryposis–renal dysfunction–cholestasis (ARC) syndrome: from molecular genetics to clinical features

Yaoyao Zhou, Junfeng Zhang

Ital J Pediatr. 2014; 40: 77. Published online 2014 Sep 20. doi: 10.1186/s13052-014-0077-3

PMCID:: PMC4422138

Abstract Article PDF–494K

Select item 461328015.

Homozygous ALOXE3 Nonsense Variant Identified in a Patient with Non-Bullous Congenital Ichthyosiform Erythroderma Complicated by Superimposed Bullous Majocchi’s Granuloma: The Consequences of Skin Barrier Dysfunction

Tao Wang, Chenchen Xu, Xiping Zhou, Chunjia Li, Hongbing Zhang, Bill Q. Lian, Jonathan J. Lee, Jun Shen, Yuehua Liu, Christine Guo Lian

Int J Mol Sci. 2015 Sep; 16(9): 21791–21801. Published online 2015 Sep 9. doi: 10.3390/ijms160921791

PMCID:: PMC4613280

Abstract Article PDF–2.2M

Select item 495605216.

Activation of Molecular Signatures for Antimicrobial and Innate Defense Responses in Skin with Transglutaminase 1 Deficiency

Takashi Haneda, Yasutomo Imai, Ryosuke Uchiyama, Orie Jitsukawa, Kiyofumi Yamanishi

PLoS One. 2016; 11(7): e0159673. Published online 2016 Jul 21. doi: 10.1371/journal.pone.0159673

PMCID:: PMC4956052

Abstract Article PDF–2.2M

Select item 509026017.

Novel mutations in the genes TGM1 and ALOXE3 underlying autosomal recessive congenital ichthyosis

Rahim Ullah, Muhammad Ansar, Zaka Ullah Durrani, Kwanghyuk Lee, Regie Lyn P. Santos-Cortez, Dost Muhammad, Mahboob Ali, Muhammad Zia, Muhammad Ayub, Suliman Khan, Josh D. Smith, Deborah A. Nickerson, Jay Shendure, Michael Bamshad, Suzanne M. Leal, Wasim Ahmad

Int J Dermatol. Author manuscript; available in PMC 2016 Nov 2.

Published in final edited form as: Int J Dermatol. 2016 May; 55(5): 524–530. Published online 2015 Nov 17. doi: 10.1111/ijd.12950

PMCID:: PMC5090260

Abstract Article PDF–1.0M

Select item 526631818.

A Defect in NIPAL4 Is Associated with Autosomal Recessive Congenital Ichthyosis in American Bulldogs

Margret L. Casal, Ping Wang, Elizabeth A. Mauldin, Gloria Lin, Paula S. Henthorn

PLoS One. 2017; 12(1): e0170708. Published online 2017 Jan 25. doi: 10.1371/journal.pone.0170708

PMCID:: PMC5266318

Abstract Article PDF–1.3M

Select item 535866119.

Autosomal Recessive Keratoderma-Ichthyosis-Deafness (ARKID) Syndrome Is Caused by VPS33B Mutations Affecting Rab Protein Interaction and Collagen Modification

Robert Gruber, Clare Rogerson, Christian Windpassinger, Blerida Banushi, Anna Straatman-Iwanowska, Joanna Hanley, Federico Forneris, Robert Strohal, Peter Ulz, Debra Crumrine, Gopinathan K. Menon, Stefan Blunder, Matthias Schmuth, Thomas Müller, Holly Smith, Kevin Mills, Peter Kroisel, Andreas R. Janecke, Paul Gissen

J Invest Dermatol. 2017 Apr; 137(4): 845–854. doi: 10.1016/j.jid.2016.12.010

PMCID:: PMC5358661

Abstract Article

Select item 538687920.

A Nonsense Variant in the ST14 Gene in Akhal-Teke Horses with Naked Foal Syndrome

Anina Bauer, Theresa Hiemesch, Vidhya Jagannathan, Markus Neuditschko, Iris Bachmann, Stefan Rieder, Sofia Mikko, M. Cecilia Penedo, Nadja Tarasova, Martina Vitková, Nicolò Sirtori, Paola Roccabianca, Tosso Leeb, Monika M. Welle

G3 (Bethesda) 2017 Apr; 7(4): 1315–1321. Published online 2017 Feb 22. doi: 10.1534/g3.117.039511

PMCID:: PMC5386879

Abstract Article PDF–2.0M

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