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Select item 51835331.

Foxc1 ablated mice are anhidrotic and recapitulate features of human miliaria sweat retention disorder

Chang-Yi Cui, Ryuga Ishii, Dean P. Campbell, Marc Michel, Yulan Piao, Tsutomu Kume, David Schlessinger

J Invest Dermatol. Author manuscript; available in PMC 2018 Jan 1.

Published in final edited form as: J Invest Dermatol. 2017 Jan; 137(1): 38–45. Published online 2016 Sep 1. doi: 10.1016/j.jid.2016.08.012

PMCID:: PMC5183533

Abstract Article PDF–2.4M

Select item 62074482.

Inherent Differences in Keratinocyte Function in Hidradenitis Suppurativa: Evidence for the role of IL-22 in disease pathogenesis

Derek Jones, Anirban Banerjee, Peter Z. Berger, Alexandra Gross, Sean McNish, Richard Amdur, Victoria K. Shanmugam

Immunol Invest. Author manuscript; available in PMC 2019 Jan 1.

Published in final edited form as: Immunol Invest. 2018 Jan; 47(1): 57–70. Published online 2017 Oct 3. doi: 10.1080/08820139.2017.1377227

PMCID:: PMC6207448

Abstract Article PDF–684K

Select item 61620873.

Integrating the skin and blood transcriptomes and serum proteome in hidradenitis suppurativa reveals complement dysregulation and a plasma cell signature

Lauren K. Hoffman, Lewis E. Tomalin, Gregory Schultz, Michael D. Howell, Niroshana Anandasabapathy, Afsaneh Alavi, Mayte Suárez-Fariñas, Michelle A. Lowes

PLoS One. 2018; 13(9): e0203672. Published online 2018 Sep 28. doi: 10.1371/journal.pone.0203672

PMCID:: PMC6162087

Abstract Article PDF–3.6M

Select item 58821404.

Identification of HLA-DRB1 association to adalimumab immunogenicity

Mohan Liu, Jacob Degner, Justin Wade Davis, Kenneth B. Idler, Ahmed Nader, Nael M. Mostafa, Jeffrey F. Waring

PLoS One. 2018; 13(4): e0195325. Published online 2018 Apr 3. doi: 10.1371/journal.pone.0195325

PMCID:: PMC5882140

Abstract Article PDF–1.2M

Select item 57104305.

The Follicular Skin Microbiome in Patients With Hidradenitis Suppurativa and Healthy Controls

Hans Christian Ring, Jonathan Thorsen, Ditte M. Saunte, Berit Lilje, Lene Bay, Peter Theut Riis, Niels Larsen, Lee O’Brien Andersen, Henrik V. Nielsen, Iben M. Miller, Thomas Bjarnsholt, Kurt Fuursted, Gregor Borut Jemec

JAMA Dermatol. 2017 Sep; 153(9): 897–905. Prepublished online 2017 May 24. Published online 2017 Sep 13. doi: 10.1001/jamadermatol.2017.0904

PMCID:: PMC5710430

Abstract Article

Select item 55366456.

Identification of a novel nonsense mutation of the neurotrophic tyrosine kinase receptor type 1 gene in two siblings with congenital insensitivity to pain with anhidrosis

Ting Wang, Haibo Li, Jingjing Xiang, Bin Wei, Qin Zhang, Qin Zhu, Minjuan Liu, Miao Sun, Hong Li

J Int Med Res. 2017 Apr; 45(2): 549–555. Published online 2017 Mar 27. doi: 10.1177/0300060517691699

PMCID:: PMC5536645

Abstract Article PDF–653K

Select item 55218747.

Altered paracellular cation permeability due to a rare CLDN10B variant causes anhidrosis and kidney damage

Joakim Klar, Jörg Piontek, Susanne Milatz, Muhammad Tariq, Muhammad Jameel, Tilman Breiderhoff, Jens Schuster, Ambrin Fatima, Maria Asif, Muhammad Sher, Katrin Mäbert, Anja Fromm, Shahid M. Baig, Dorothee Günzel, Niklas Dahl

PLoS Genet. 2017 Jul; 13(7): e1006897. Published online 2017 Jul 7. doi: 10.1371/journal.pgen.1006897

PMCID:: PMC5521874

Abstract Article PDF–27M

Select item 54230338.

A missense variant of the ABCC11 gene is associated with Axillary Osmidrosis susceptibility and clinical phenotypes in the Chinese Han Population

Yunqing Ren, Wenting Liu, Jisu Chen, Jianyou Wang, Ke Wang, Jiong Zhou, Suiqing Cai, Min Zheng, Jianjun Liu, Lunfei Liu, Dan Xue

Sci Rep. 2017; 7: 46335. Published online 2017 May 9. doi: 10.1038/srep46335

PMCID:: PMC5423033

Abstract Article PDF–274K

Select item 53738909.

Mutations in γ-secretase subunit–encoding PSENEN underlie Dowling-Degos disease associated with acne inversa

Damian J. Ralser, F. Buket Ü. Basmanav, Aylar Tafazzoli, Jade Wititsuwannakul, Sarah Delker, Sumita Danda, Holger Thiele, Sabrina Wolf, Michélle Busch, Susanne A. Pulimood, Janine Altmüller, Peter Nürnberg, Didier Lacombe, Uwe Hillen, Jörg Wenzel, Jorge Frank, Benjamin Odermatt, Regina C. Betz

J Clin Invest. 2017 Apr 3; 127(4): 1485–1490. Published online 2017 Mar 13. doi: 10.1172/JCI90667

PMCID:: PMC5373890

Abstract Article PDF–2.2M

Select item 536894110.

Malignant acrospiroma: a case report in the era of next generation sequencing

Maria Diab, Ali Gabali, Muaiad Kittaneh

BMC Cancer. 2017; 17: 221. Published online 2017 Mar 27. doi: 10.1186/s12885-017-3217-5

PMCID:: PMC5368941

Abstract Article PDF–578K

Select item 630210511.

Hidradenitis Suppurativa: A Systematic Review Integrating Inflammatory Pathways Into a Cohesive Pathogenic Model

Allard R. J. V. Vossen, Hessel H. van der Zee, Errol P. Prens

Front Immunol. 2018; 9: 2965. Published online 2018 Dec 14. doi: 10.3389/fimmu.2018.02965

PMCID:: PMC6302105

Abstract Article PDF–1.0M

Select item 517558912.

Combined Melanocytic and Sweat Gland Neoplasm: Cell Subsets Harbor an Identical HRAS Mutation in Phacomatosis Pigmentokeratotica

Janet Y. Li, Michael F. Berger, Ashfaq Marghoob, Umesh K. Bhanot, Jennifer P. Toyohara, Melissa P. Pulitzer

J Cutan Pathol. Author manuscript; available in PMC 2016 Dec 21.

Published in final edited form as: J Cutan Pathol. 2014 Aug; 41(8): 663–671. Published online 2014 Jul 9. doi: 10.1111/cup.12339

PMCID:: PMC5175589

Abstract Article PDF–2.3M

Select item 514679213.

Novel Mutations in PSENEN Gene in Two Chinese Acne Inversa Families Manifested as Familial Multiple Comedones and Dowling-Degos Disease

Cheng Zhou, Guang-Dong Wen, Lwin Myint Soe, Hong-Jun Xu, Juan Du, Jian-Zhong Zhang

Chin Med J (Engl) 2016 Dec 5; 129(23): 2834–2839. doi: 10.4103/0366-6999.194648

PMCID:: PMC5146792

Abstract Article PDF–1.3M

Select item 507680714.

Mutations in TrkA Causing Congenital Insensitivity to Pain with Anhidrosis (CIPA) Induce Misfolding, Aggregation, and Mutation-dependent Neurodegeneration by Dysfunction of the Autophagic Flux

María Luisa Franco, Cristina Melero, Esther Sarasola, Paloma Acebo, Alfonso Luque, Isabel Calatayud-Baselga, María García-Barcina, Marçal Vilar

J Biol Chem. 2016 Oct 7; 291(41): 21363–21374. Published online 2016 Aug 22. doi: 10.1074/jbc.M116.722587

PMCID:: PMC5076807

Abstract Article PDF–2.4M

Select item 501151315.

Uroplakin II Expression in Breast Carcinomas Showing Apocrine Differentiation: Putting Some Emphasis on Invasive Pleomorphic Lobular Carcinoma as a Potential Mimic of Urothelial Carcinoma at Metastatic Sites

Shogo Tajima, Kenji Koda

Dis Markers. 2016; 2016: 2940496. Published online 2016 May 26. doi: 10.1155/2016/2940496

PMCID:: PMC5011513

Abstract Article PDF–6.1M

Select item 500546816.

Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa

Andrea Angius, Paolo Uva, Insa Buers, Manuela Oppo, Alessandro Puddu, Stefano Onano, Ivana Persico, Angela Loi, Loredana Marcia, Wolfgang Höhne, Gianmauro Cuccuru, Giorgio Fotia, Manila Deiana, Mara Marongiu, Hatice Tuba Atalay, Sibel Inan, Osama El Assy, Leo M.E. Smit, Ilyas Okur, Koray Boduroglu, Gülen Eda Utine, Esra Kılıç, Giuseppe Zampino, Giangiorgio Crisponi, Laura Crisponi, Frank Rutsch

Am J Hum Genet. 2016 Jul 7; 99(1): 236–245. Published online 2016 Jul 7. doi: 10.1016/j.ajhg.2016.05.026