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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 100774872.

Whole transcriptome–based skin virome profiling in typical epidermodysplasia verruciformis reveals α-, β-, and γ-HPV infections

Amir Hossein Saeidian, Leila Youssefian, Mahtab Naji, Hamidreza Mahmoudi, Samantha M. Barnada, Charles Huang, Karim Naghipoor, Amir Hozhabrpour, Jason S. Park, Flavia Manzo Margiotta, Fatemeh Vahidnezhad, Zahra Saffarian, Kambiz Kamyab-Hesari, Mohammad Tolouei, Niloofar Faraji, Seyyede Zeinab Azimi, Ghazal Namdari, Parvin Mansouri, Jean-Laurent Casanova, Vivien Béziat, Emmanuelle Jouanguy, Jouni Uitto, Hassan Vahidnezhad

JCI Insight. 2023 Mar 8; 8(5): e162558. Published online 2023 Mar 8. doi: 10.1172/jci.insight.162558

PMCID:: PMC10077487

Abstract Article PDF–42M

Select item 100034793.

Imbalanced IL-1B and IL-18 Expression in Sézary Syndrome

Kelly Cristina Gomes Manfrere, Marina Passos Torrealba, Frederico Moraes Ferreira, Emanuella Sarmento Alho de Sousa, Denis Miyashiro, Franciane Mouradian Emidio Teixeira, Ricardo Wesley Alberca Custódio, Helder I. Nakaya, Yasmin Alefe Leuzzi Ramos, Mirian Nacagami Sotto, Anders Woetmann, Niels Ødum, Alberto José da Silva Duarte, José Antonio Sanches, Maria Notomi Sato

Int J Mol Sci. 2023 Mar; 24(5): 4674. Published online 2023 Feb 28. doi: 10.3390/ijms24054674

PMCID:: PMC10003479

Abstract Article PDF–2.5M

Select item 100653444.

A novel mutation in PRKAR1A gene in a patient with Carney complex presenting with pituitary macroadenoma, acromegaly, Cushing's syndrome and recurrent atrial myxoma

Ali A. Ghazi, Mohammad Hossein Mandegar, Mohammad Abazari, Neda Behzadnia, Taraneh Sadeghian, Siamak Shariat Torbaghan, Alireza Amirbaigloo

Arch Endocrinol Metab. 2021 Jun; 65(3): 376–380. Published online 2021 Apr 29. doi: 10.20945/2359-3997000000369

PMCID:: PMC10065344

Abstract Article PDF–1.3M

Select item 100603565.

Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita with microcephaly

Franziska Schnabel, Elisabeth Schuler, Almundher Al-Maawali, Ankur Chaurasia, Steffen Syrbe, Adila Al-Kindi, Gandham SriLakshmi Bhavani, Anju Shukla, Janine Altmüller, Peter Nürnberg, Siddharth Banka, Katta M. Girisha, Yun Li, Bernd Wollnik, Gökhan Yigit

Hum Genet. 2023; 142(4): 543–552. Published online 2023 Mar 21. doi: 10.1007/s00439-023-02528-2

PMCID:: PMC10060356

Abstract Article PDF–1.6M

Select item 100586636.

Inflammatory Skin Disease Causes Anxiety Symptoms Leading to an Irreversible Course

Shohei Iida, Hirotaka Shoji, Fumihiro Kawakita, Takehisa Nakanishi, Yoshiaki Matsushima, Makoto Kondo, Koji Habe, Hidenori Suzuki, Tsuyoshi Miyakawa, Keiichi Yamanaka

Int J Mol Sci. 2023 Mar; 24(6): 5942. Published online 2023 Mar 21. doi: 10.3390/ijms24065942

PMCID:: PMC10058663

Abstract Article PDF–3.2M

Select item 100556287.

Genetic/Protein Association of Atopic Dermatitis and Tooth Agenesis

Wanlu Ouyang, Charlene E. Goh, Wei Bo Ng, Fook Tim Chew, Eric Peng Huat Yap, Chin-ying Stephen Hsu

Int J Mol Sci. 2023 Mar; 24(6): 5754. Published online 2023 Mar 17. doi: 10.3390/ijms24065754

PMCID:: PMC10055628

Abstract Article PDF–1.5M

Select item 100490618.

A Novel Fluorescence-Based Screen of Gene Editing Molecules for Junctional Epidermolysis Bullosa

Janine Zwicklhuber, Thomas Kocher, Bernadette Liemberger, Stefan Hainzl, Johannes Bischof, Dirk Strunk, Anna M. Raninger, Iris Gratz, Verena Wally, Christina Guttmann-Gruber, Josefina Piñón Hofbauer, Johann W. Bauer, Ulrich Koller

Int J Mol Sci. 2023 Mar; 24(6): 5197. Published online 2023 Mar 8. doi: 10.3390/ijms24065197

PMCID:: PMC10049061

Abstract Article PDF–3.8M

Select item 100488149.

Identification of Three Human POLH Germline Variants Defective in Complementing the UV- and Cisplatin-Sensitivity of POLH-Deficient Cells

Mina Yeom, Jin-Kyung Hong, Joo-Ho Shin, Yunjong Lee, Frederick Peter Guengerich, Jeong-Yun Choi

Int J Mol Sci. 2023 Mar; 24(6): 5198. Published online 2023 Mar 8. doi: 10.3390/ijms24065198

PMCID:: PMC10048814

Abstract Article PDF–1.7M

Select item 1004856810.

Mutational Spectrum of the ABCA12 Gene and Genotype–Phenotype Correlation in a Cohort of 64 Patients with Autosomal Recessive Congenital Ichthyosis

Alrun Hotz, Julia Kopp, Emmanuelle Bourrat, Vinzenz Oji, Kira Süßmuth, Katalin Komlosi, Bakar Bouadjar, Iliana Tantcheva-Poór, Maritta Hellström Pigg, Regina C. Betz, Kathrin Giehl, Fiona Schedel, Lisa Weibel, Solveig Schulz, Dora V. Stölzl, Gianluca Tadini, Emine Demiral, Karin Berggard, Andreas D. Zimmer, Svenja Alter, Judith Fischer

Genes (Basel) 2023 Mar; 14(3): 717. Published online 2023 Mar 15. doi: 10.3390/genes14030717

PMCID:: PMC10048568

Abstract Article PDF–1.3M

Select item 1004833211.

Prenatal Clinical Findings in RASA1-Related Capillary Malformation-Arteriovenous Malformation Syndrome

Emanuele Coccia, Lara Valeri, Roberta Zuntini, Stefano Giuseppe Caraffi, Francesca Peluso, Luca Pagliai, Antonietta Vezzani, Zaira Pietrangiolillo, Francesco Leo, Nives Melli, Valentina Fiorini, Andrea Greco, Francesca Romana Lepri, Elisa Pisaneschi, Annabella Marozza, Diana Carli, Alessandro Mussa, Francesca Clementina Radio, Beatrice Conti, Maria Iascone, Giancarlo Gargano, Antonio Novelli, Marco Tartaglia, Orsetta Zuffardi, Maria Francesca Bedeschi, Livia Garavelli

Genes (Basel) 2023 Mar; 14(3): 549. Published online 2023 Feb 22. doi: 10.3390/genes14030549

PMCID:: PMC10048332

Abstract Article PDF–5.9M

Select item 1004818112.

Pathophysiological Investigation of Skeletal Deformities of Musculocontractural Ehlers–Danlos Syndrome Using Induced Pluripotent Stem Cells

Fengming Yue, Takumi Era, Tomomi Yamaguchi, Tomoki Kosho

Genes (Basel) 2023 Mar; 14(3): 730. Published online 2023 Mar 16. doi: 10.3390/genes14030730

PMCID:: PMC10048181

Abstract Article PDF–3.3M

Select item 1001401913.

Xeroderma pigmentosum: case report

Maria Eduarda Coelho Cordeiro, Luisa Corte Real, Andrea Gisele Pereira Simoni

Rev Paul Pediatr. 2023; 41: e2021390. Published online 2023 Mar 13. doi: 10.1590/1984-0462/2023/41/2021390

PMCID:: PMC10014019

Abstract Article PDF–2.2M

Select item 1000990914.

Etiological identification of recurrent male fatality due to a novel NSDHL gene mutation using trio whole‐exome sequencing: A rare case report and literature review

Jianlong Zhuang, Qi Luo, Meihua Xie, Yu’e Chen, Yuying Jiang, Shuhong Zeng, Yuanbai Wang, Yingjun Xie, Chunnuan Chen

Mol Genet Genomic Med. 2023 Mar; 11(3): e2121. Published online 2022 Dec 11. doi: 10.1002/mgg3.2121

PMCID:: PMC10009909

Abstract Article PDF–1.0M

Select item 1000903415.

A GDF2 missense mutation potentially involved in the pathogenesis of hereditary hemorrhagic telangiectasia: a case report

Le Ma, Xi Peng, Qiang Gong

J Int Med Res. 2023 Mar; 51(3): 03000605231159545. Published online 2023 Mar 9. doi: 10.1177/03000605231159545

PMCID:: PMC10009034

Abstract Article PDF–882K

Select item 1000517916.

Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice

Sarah E. Sheppard, Laura Bryant, Rochelle N. Wickramasekara, Courtney Vaccaro, Brynn Robertson, Jodi Hallgren, Jason Hulen, Cynthia J. Watson, Victor Faundes, Yannis Duffourd, Pearl Lee, M. Celeste Simon, Xavier de la Cruz, Natália Padilla, Marco Flores-Mendez, Naiara Akizu, Jacqueline Smiler, Renata Pellegrino Da Silva, Dong Li, Michael March, Abdias Diaz-Rosado, Isabella Peixoto de Barcelos, Zhao Xiang Choa, Chin Yan Lim, Christèle Dubourg, Hubert Journel, Florence Demurger, Maureen Mulhern, Cigdem Akman, Natalie Lippa, Marisa Andrews, Dustin Baldridge, John Constantino, Arie van Haeringen, Irina Snoeck-Streef, Penny Chow, Anne Hing, John M. Graham, Jr., Margaret Au, Laurence Faivre, Wei Shen, Rong Mao, Janice Palumbos, David Viskochil, William Gahl, Cynthia Tifft, Ellen Macnamara, Natalie Hauser, Rebecca Miller, Jessica Maffeo, Alexandra Afenjar, Diane Doummar, Boris Keren, Pamela Arn, Sarah Macklin-Mantia, Ilse Meerschaut, Bert Callewaert, André Reis, Christiane Zweier, Carole Brewer, Anand Saggar, Marie F. Smeland, Ajith Kumar, Frances Elmslie, Charu Deshpande, Mathilde Nizon, Benjamin Cogne, Yvette van Ierland, Martina Wilke, Marjon van Slegtenhorst, Suzanne Koudijs, Jin Yun Chen, David Dredge, Danielle Pier, Saskia Wortmann, Erik-Jan Kamsteeg, Johannes Koch, Devon Haynes, Lynda Pollack, Hannah Titheradge, Kara Ranguin, Anne-Sophie Denommé-Pichon, Sacha Weber, Rubén Pérez de la Fuente, Jaime Sánchez del Pozo, Jose Miguel Lezana Rosales, Pascal Joset, Katharina Steindl, Anita Rauch, Davide Mei, Francesco Mari, Renzo Guerrini, James Lespinasse, Frédéric Tran Mau-Them, Christophe Philippe, Benjamin Dauriat, Laure Raymond, Sébastien Moutton, Anna M. Cueto-González, Tiong Yang Tan, Cyril Mignot, Sarah Grotto, Florence Renaldo, Theodore G. Drivas, Laura Hennessy, Anna Raper, Ilaria Parenti, Frank J. Kaiser, Alma Kuechler, Øyvind L. Busk, Lily Islam, Jacob A. Siedlik, Lindsay B. Henderson, Jane Juusola, Richard Person, Rhonda E. Schnur, Antonio Vitobello, Siddharth Banka, Elizabeth J. Bhoj, Holly A. F. Stessman

Sci Adv. 2023 Mar; 9(10): eade1463. Published online 2023 Mar 10. doi: 10.1126/sciadv.ade1463

PMCID:: PMC10005179

Abstract Article PDF–2.0M

Select item 1013768817.

A Complex Intrachromosomal Rearrangement Disrupting IRF6 in a Family with Popliteal Pterygium and Van der Woude Syndromes

Alya A. Al-Kurbi, Elbay Aliyev, Sana AlSa’afin, Waleed Aamer, Sasirekha Palaniswamy, Aljazi Al-Maraghi, Houda Kilani, Ammira Al-Shabeeb Akil, Mitchell A. Stotland, Khalid A. Fakhro

Genes (Basel) 2023 Apr; 14(4): 849. Published online 2023 Mar 31. doi: 10.3390/genes14040849

PMCID:: PMC10137688

Abstract Article PDF–2.5M

Select item 1007906718.

A Hidradenitis Suppurativa molecular disease signature derived from patient samples by high-throughput RNA sequencing and re-analysis of previously reported transcriptomic data sets

Johannes M. Freudenberg, Zhi Liu, Jennifer Singh, Elizabeth Thomas, Christopher Traini, Deepak K. Rajpal, Christopher J. Sayed

PLoS One. 2023; 18(4): e0284047. Published online 2023 Apr 6. doi: 10.1371/journal.pone.0284047

PMCID:: PMC10079067

Abstract Article PDF–1.7M

Select item 1008079519.

Chenodeoxycholic acid rescues axonal degeneration in induced pluripotent stem cell-derived neurons from spastic paraplegia type 5 and cerebrotendinous xanthomatosis patients

Yongchao Mou, Ghata Nandi, Sukhada Mukte, Eric Chai, Zhenyu Chen, Jorgen E. Nielsen, Troels T. Nielsen, Chiara Criscuolo, Craig Blackstone, Matthew J. Fraidakis, Xue-Jun Li

Orphanet J Rare Dis. 2023; 18: 72. Published online 2023 Apr 6. doi: 10.1186/s13023-023-02666-w

PMCID:: PMC10080795

Abstract Article PDF–5.7M

Select item 1008745120.

Prevalence of delayed puberty and low bone density in patients with epidermolysis bullosa: Insight from a large single center's experience

Halley Wasserman, Andrea Dumenigo, Lindsey Hornung, Bret Augsburger, Kalyani Marathe, Anne W. Lucky

Pediatr Dermatol. 2023 Jan-Feb; 40(1): 100–106. Published online 2022 Sep 25. doi: 10.1111/pde.15136

PMCID:: PMC10087451

Abstract Article PDF–1.4M

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