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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 111444672.

Genetically proxied low-density lipoprotein cholesterol lowering via PCSK9-inhibitor drug targets and risk of congenital malformations

Maddalena Ardissino, Eric A W Slob, Rohin K Reddy, Alec P Morley, Art Schuermans, Phoebe Hill, Catherine Williamson, Michael C Honigberg, Antonio de Marvao, Fu Siong Ng

Eur J Prev Cardiol. 2024 Jun; 31(8): 955–965. Published online 2024 Jan 31. doi: 10.1093/eurjpc/zwad402

PMCID:: PMC11144467

Abstract Article PDF–1.0M

Select item 111390743.

The NF-κB signaling pathway in human genetic diseases

G. Courtois

Cell Mol Life Sci. 2005 Aug; 62(15): 1682–1691. Published online 2005 May 28. doi: 10.1007/s00018-005-5031-5

PMCID:: PMC11139074

Abstract Article PDF–1.0M

Select item 111388054.

Human Genome and Diseases:¶Dyskeratosis congenita

A. Marrone, P. J. Mason

Cell Mol Life Sci. 2003 Mar; 60(3): 507–517. doi: 10.1007/s000180300042

PMCID:: PMC11138805

Abstract Article PDF–351K

Select item 111320715.

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 111294766.

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 111206707.

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 111158208.

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 111148979.

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 1111329710.

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 1111029011.

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 1110771212.

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 1110541713.

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 1110328814.

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 1110025715.

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 1109914616.

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 1109756417.

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 1109458318.

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 1109207819.

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