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Select item 90601451.

Preclinical assessment of dual CYP26[A1/B1] inhibitor, DX308, as an improved treatment for keratinization disorders

J.G.S. Veit, Y. Poumay, D. Mendes, J. Kreitinger, L. Walker, A. Paquet, C. Menigot, F. Zolezzi, A.S. Paller, P. Diaz

Skin Health Dis. 2021 Jun; 1(2): e22. Published online 2021 Mar 26. doi: 10.1002/ski2.22

PMCID:: PMC9060145

Abstract Article PDF–2.0M

Select item 111320712.

Integrating Single‐Cell and Spatial Transcriptomics Reveals Heterogeneity of Early Pig Skin Development and a Subpopulation with Hair Placode Formation

Yi Wang, Yao Jiang, Guiyan Ni, Shujuan Li, Brad Balderson, Quan Zou, Huatao Liu, Yifan Jiang, Jingchun Sun, Xiangdong Ding

Adv Sci (Weinh) 2024 May; 11(20): 2306703. Published online 2024 Apr 1. doi: 10.1002/advs.202306703

PMCID:: PMC11132071

Abstract Article PDF–12M

Select item 111294763.

Malignant tumors in tuberous sclerosis complex: a case report and review of the literature

Cassie Liu, Subodh M. Lele, Martin H. Goodenberger, Gwendolyn M. Reiser, Andrew J. Christiansen, James C. Padussis

BMC Med Genomics. 2024; 17: 144. Published online 2024 May 27. doi: 10.1186/s12920-024-01913-8

PMCID:: PMC11129476

Abstract Article PDF–1.5M

Select item 111206704.

CHD7 Disorder—Not CHARGE Syndrome—Presenting as Isolated Cochleovestibular Dysfunction

Jef Driesen, Helen Van Hoecke, Leen Maes, Sandra Janssens, Frederic Acke, Els De Leenheer

Genes (Basel) 2024 May; 15(5): 643. Published online 2024 May 19. doi: 10.3390/genes15050643

PMCID:: PMC11120670

Abstract Article PDF–3.1M

Select item 111158205.

Cross-reactivity of autoantibodies from patients with epidermolysis bullosa acquisita with murine collagen VII

Kinga Csorba, Alina Sesarman, Eva Oswald, Vasile Feldrihan, Anja Fritsch, Takashi Hashimoto, Cassian Sitaru

Cell Mol Life Sci. 2010 Apr; 67(8): 1343–1351. Published online 2010 Jan 20. doi: 10.1007/s00018-009-0256-3

PMCID:: PMC11115820

Abstract Article PDF–480K

Select item 111148976.

Structure of the gap junction channel and its implications for its biological functions

Shoji Maeda, Tomitake Tsukihara

Cell Mol Life Sci. 2011 Apr; 68(7): 1115–1129. Published online 2010 Oct 21. doi: 10.1007/s00018-010-0551-z

PMCID:: PMC11114897

Abstract Article PDF–1.0M

Select item 111132977.

Anna Senegas, Jérémie Gautheron, Alice Gentil Dit Maurin, Gilles Courtois

Cell Mol Life Sci. 2015 Apr; 72(7): 1275–1287. Published online 2014 Nov 29. doi: 10.1007/s00018-014-1793-y

Correction in:: Cell Mol Life Sci. 2015 Apr; 72(7): 1289.

PMCID:: PMC11113297

Abstract Article PDF–1.4M

Select item 111102908.

Central nervous system anomalies in 41 Chinese children incontinentia pigmenti

Li Yin, Zhengyuan Li, Wenjuan Zhan, Yuanjie Kang, Qian Tian, Dan Li, Huifang Zhang

BMC Neurosci. 2024; 25: 25. Published online 2024 May 21. doi: 10.1186/s12868-024-00872-1

PMCID:: PMC11110290

Abstract Article PDF–1.5M

Select item 111077129.

The role of the ATP2C1 gene in Hailey–Hailey disease

Hao Deng, Heng Xiao

Cell Mol Life Sci. 2017 Oct; 74(20): 3687–3696. Published online 2017 May 27. doi: 10.1007/s00018-017-2544-7

PMCID:: PMC11107712

Abstract Article PDF–1.3M

Select item 1110541710.

Adamts17 is involved in skeletogenesis through modulation of BMP-Smad1/5/8 pathway

Takeshi Oichi, Yuki Taniguchi, Kazuhito Soma, Yasushi Oshima, Fumiko Yano, Yoshifumi Mori, Ryota Chijimatsu, Joo-ri Kim-Kaneyama, Sakae Tanaka, Taku Saito

Cell Mol Life Sci. 2019 Dec; 76(23): 4795–4809. Published online 2019 Jun 14. doi: 10.1007/s00018-019-03188-0

Correction in:: Cell Mol Life Sci. 2019 Dec; 76(23): 4811–4812.

PMCID:: PMC11105417

Abstract Article PDF–6.4M

Select item 1110328811.

Detailed clinical, physiological and pathological phenotyping can impact access to disease-modifying treatments in ATTR carriers

Diane Beauvais, Céline Labeyrie, Cécile Cauquil, Bruno Francou, Ludivine Eliahou, Adeline Not, Andoni Echaniz-Laguna, Clovis Adam, Michel S Slama, Anouar Benmalek, Luca Leonardi, François Rouzet, David Adams, Vincent Algalarrondo, Guillemette Beaudonnet

J Neurol Neurosurg Psychiatry. 2024 Jun; 95(6): 489–499. Published online 2023 Oct 24. doi: 10.1136/jnnp-2023-332180

PMCID:: PMC11103288

Abstract Article PDF–1.4M

Select item 1110025712.

Dermatologic and Dental Aspects of the 2012 International Tuberous Sclerosis Complex Consensus Statements

Joyce Teng, Edward W. Cowen, Mari Wataya-Kaneda, Elizabeth S. Gosnell, Patricia M. Witman, Adelaide A. Hebert, Greg Mlynarczyk, Keyoumars Soltani, Thomas N. Darling

JAMA Dermatol. Author manuscript; available in PMC 2024 May 17.

Published in final edited form as: JAMA Dermatol. 2014 Oct; 150(10): 1095–1101. doi: 10.1001/jamadermatol.2014.938

PMCID:: PMC11100257

Abstract Article PDF–977K

Select item 1109914613.

Fibroblasts’ secretome from calcified and non-calcified dermis in Pseudoxanthoma elasticum differently contributes to elastin calcification

Francesco Demetrio Lofaro, Sonia Costa, Maria Luisa Simone, Daniela Quaglino, Federica Boraldi

Commun Biol. 2024; 7: 577. Published online 2024 May 16. doi: 10.1038/s42003-024-06283-6

PMCID:: PMC11099146

Abstract Article PDF–3.1M

Select item 1109756414.

Li Gu, Xue-Hui He, Peng Zhu

BMC Pediatr. 2024; 24: 338. Published online 2024 May 16. doi: 10.1186/s12887-024-04830-y

PMCID:: PMC11097564

Abstract Article PDF–1.0M

Select item 1109458315.

Genetic analysis of seven patients with inherited ichthyosis and Nagashima‑type palmoplantar keratoderma

Jing Zhang, Yue Yao, Ya Tan, Hua-Ying Hu, Lin-Xi Zeng, Guo-Qiang Zhang

Mol Med Rep. 2024 Jul; 30(1): 111. Published online 2024 May 1. doi: 10.3892/mmr.2024.13235

PMCID:: PMC11094583

Abstract Article PDF–2.3M

Select item 1109207816.

Diagnosis and treatment of the Ehlers-Danlos syndromes in China: synopsis of the first guidelines

Kexin Xu, Guozhuang Li, Zhihong Wu, Terry Jianguo Zhang, Nan Wu, On behalf of the Chinese Multi-Disciplinary Working Group on the Ehlers-Danlos Syndromes

Orphanet J Rare Dis. 2024; 19: 194. Published online 2024 May 13. doi: 10.1186/s13023-024-03121-0

PMCID:: PMC11092078

Abstract Article PDF–1005K

Select item 1108980717.

Lysosomal dysfunction and overload of nucleosides in thymidine phosphorylase deficiency of MNGIE

Jixiang Du, Fuchen Liu, Xihan Liu, Dandan Zhao, Dongdong Wang, Hongsheng Sun, Chuanzhu Yan, Yuying Zhao

J Transl Med. 2024; 22: 449. Published online 2024 May 13. doi: 10.1186/s12967-024-05275-8

PMCID:: PMC11089807

Abstract Article PDF–2.9M

Select item 1108138118.

Creation and characterization of novel rat model for recessive dystrophic epidermolysis bullosa: Frameshift mutation of the Col7a1 gene leads to severe blistered phenotype

William Stone, Chloe Strege, William Miller, Aron M. Geurts, Michael Grzybowski, Megan Riddle, Christopher Lees, Cindy Eide, Douglas R. Keene, Sara F. Tufa, Davis Seelig, John McGrath, Jakub Tolar

PLoS One. 2024; 19(5): e0302991. Published online 2024 May 9. doi: 10.1371/journal.pone.0302991

PMCID:: PMC11081381

Abstract Article PDF–3.3M

Select item 1107522919.

Reversible encephalitis-like episodes in fragile X-associated tremor/ataxia syndrome: a case report

Shaoping Zhong, Jianying Liu, Yangye Lian, Binbin Zhou, Xin Wang, Jing Ding

BMC Neurol. 2024; 24: 154. Published online 2024 May 7. doi: 10.1186/s12883-024-03641-z

PMCID:: PMC11075229

Abstract Article PDF–3.1M

Select item 1107455920.

Advantages of whole-exome sequencing over immunomapping in 67 Brazilian patients with epidermolysis bullosa

Samantha Vernaschi Kelmann, Bruno de Oliveira Stephan, Silvia Maria de Macedo Barbosa, Rita Tiziana Verardo Polastrini, Zilda Najjar Prado de Oliveira, Maria Cecília Rivitti-Machado, Gustavo Marquezani Spolador, Rachel Sayuri Honjo, Ken Saida, Naomichi Matsumoto, Chong Ae Kim

An Bras Dermatol. 2024 May-Jun; 99(3): 350–356. Published online 2024 Feb 16. doi: 10.1016/j.abd.2023.07.002