U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from MedGen

Items: 1 to 20 of 54

1.
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
AbstractArticlePDF–1.0M
2.
KCTD1/KCTD15 complexes control ectodermal and neural crest cell functions, and their impairment causes aplasia cutis
Jackelyn R. Raymundo, Hui Zhang, Giovanni Smaldone, Wenjuan Zhu, Kathleen E. Daly, Benjamin J. Glennon, Giovanni Pecoraro, Marco Salvatore, William A. Devine, Cecilia W. Lo, Luigi Vitagliano, Alexander G. Marneros
J Clin Invest. 2024 Feb 15; 134(4): e174138. Published online 2023 Dec 19. doi: 10.1172/JCI174138
PMCID:
PMC10866662
AbstractArticlePDF–143M
3.
Recent advances in the role of Yes‐associated protein in dermatosis
Xiaorong Jia, Li He, Zhi Yang
Skin Res Technol. 2023 Mar; 29(3): e13285. Published online 2023 Feb 27. doi: 10.1111/srt.13285
PMCID:
PMC10155855
AbstractArticlePDF–447K
4.
Protocol for the Phase 2 EDELIFE Trial Investigating the Efficacy and Safety of Intra-Amniotic ER004 Administration to Male Subjects with X-Linked Hypohidrotic Ectodermal Dysplasia
Holm Schneider, Smail Hadj-Rabia, Florian Faschingbauer, Christine Bodemer, Dorothy K. Grange, Mary E. Norton, Riccardo Cavalli, Gianluca Tadini, Holger Stepan, Angus Clarke, Encarna Guillén-Navarro, Sigrun Maier-Wohlfart, Athmane Bouroubi, Florence Porte
Genes (Basel) 2023 Jan; 14(1): 153. Published online 2023 Jan 6. doi: 10.3390/genes14010153
PMCID:
PMC9858920
AbstractArticlePDF–531K
5.
Ectodysplasin A (EDA) Signaling: From Skin Appendage to Multiple Diseases
Ruihan Yang, Yilan Mei, Yuhan Jiang, Huiling Li, Ruixi Zhao, Jian Sima, Yuyuan Yao
Int J Mol Sci. 2022 Aug; 23(16): 8911. Published online 2022 Aug 10. doi: 10.3390/ijms23168911
PMCID:
PMC9408960
AbstractArticlePDF–824K
6.
Regional specific differentiation of integumentary organs: SATB2 is involved in α- and β-keratin gene cluster switching in the chicken
Gee-Way Lin, Ya-Chen Liang, Ping Wu, Chih-Kuan Chen, Yung-Chih Lai, Ting-Xin Jiang, Yen-Hua Haung, Cheng-Ming Chuong
Dev Dyn. Author manuscript; available in PMC 2023 Sep 1.
Published in final edited form as: Dev Dyn. 2022 Sep; 251(9): 1490–1508. Published online 2021 Jul 17. doi: 10.1002/dvdy.396
PMCID:
PMC8742846
AbstractArticlePDF–1.7M
7.
Hypertrichotic patches as a mosaic manifestation of Proteus syndrome
Deeti J. Pithadia, John W. Roman, Julie C. Sapp, Leslie G. Biesecker, Thomas N. Darling
J Am Acad Dermatol. Author manuscript; available in PMC 2022 Feb 1.
Published in final edited form as: J Am Acad Dermatol. 2021 Feb; 84(2): 415–424. Published online 2020 Feb 7. doi: 10.1016/j.jaad.2020.01.078
PMCID:
PMC7415737
AbstractArticlePDF–668K
8.
Pathophysiology of pachyonychia congenita-associated palmoplantar keratoderma:New insight into skin epithelial homeostasis and avenues for treatment
A. G. Zieman, P. A. Coulombe
Br J Dermatol. Author manuscript; available in PMC 2021 Mar 1.
Published in final edited form as: Br J Dermatol. 2020 Mar; 182(3): 564–573. Published online 2019 Jul 24. doi: 10.1111/bjd.18033
PMCID:
PMC6814456
AbstractArticlePDF–1.5M
9.
Lrp4 and Wise interplay controls the formation and patterning of mammary and other skin appendage placodes by modulating Wnt signaling
Youngwook Ahn, Carrie Sims, Jennifer M. Logue, Scott D. Weatherbee, Robb Krumlauf
Development. 2013 Feb 1; 140(3): 583–593. Published online 2013 Jan 4. doi: 10.1242/dev.085118
PMCID:
PMC6514302
AbstractArticle
10.
Ectodermal dysplasia of hair and nail type: mapping of a novel locus to chromosome 17p12-q21.2
M. Naeem, M. Jelani, K. Lee, G. Ali, M.S. Chishti, A. Wali, A. Gul, P. John, M.J. Hassan, S.M. Leal, W. Ahmad
Br J Dermatol. Author manuscript; available in PMC 2018 Sep 25.
Published in final edited form as: Br J Dermatol. 2006 Dec; 155(6): 1184–1190. doi: 10.1111/j.1365-2133.2006.07509.x
PMCID:
PMC6155468
AbstractArticlePDF–932K
11.
Correction of aberrant growth preserves tissue homeostasis
Samara Brown, Cristiana M. Pineda, Tianchi Xin, Jonathan Boucher, Kathleen C. Suozzi, Sangbum Park, Catherine Matte-Martone, David G. Gonzalez, Julie Rytlewski, Slobodan Beronja, Valentina Greco
Nature. Author manuscript; available in PMC 2018 Feb 17.
Published in final edited form as: Nature. 2017 Aug 17; 548(7667): 334–337. Published online 2017 Aug 2. doi: 10.1038/nature23304
PMCID:
PMC5675114
AbstractArticlePDF–6.6M
12.
ERBB3 is required for tumor promotion in a mouse model of skin carcinogenesis
Maik Dahlhoff, Matthias Schäfer, Sukalp Muzumdar, Christian Rose, Marlon R. Schneider
Mol Oncol. 2015 Nov; 9(9): 1825–1833. Published online 2015 Jul 3. doi: 10.1016/j.molonc.2015.06.007
PMCID:
PMC5528713
AbstractArticlePDF–2.6M
13.
Systematic screening for skin, hair, and nail abnormalities in a large-scale knockout mouse program
John P. Sundberg, Soheil S. Dadras, Kathleen A. Silva, Victoria E. Kennedy, Gaven Garland, Stephen A. Murray, Beth A. Sundberg, Paul N. Schofield, C. Herbert Pratt
PLoS One. 2017; 12(7): e0180682. Published online 2017 Jul 10. doi: 10.1371/journal.pone.0180682
PMCID:
PMC5503261
AbstractArticlePDF–31M
14.
Estrogen modulates mesenchyme-epidermis interactions in the adult nipple
Hsing-Jung Wu, Ji Won Oh, Dan F. Spandau, Sunil Tholpady, Jesus Diaz, III, Laura J. Schroeder, Carlos D. Offutt, Adam B. Glick, Maksim V. Plikus, Sachiko Koyama, John Foley
Development. 2017 Apr 15; 144(8): 1498–1509. doi: 10.1242/dev.141630
PMCID:
PMC5399661
AbstractArticle
15.
Isolated recessive nail dysplasia caused by FZD6 mutations: report of three families and review of the literature
C. Kasparis, D. Reid, N. J. Wilson, V. Okur, C. Cole, C. D. Hansen, K. Bosse, R. C. Betz, M. Khan, F. J. D. Smith
Clin Exp Dermatol. 2016 Dec; 41(8): 884–889. Published online 2016 Oct 27. doi: 10.1111/ced.12934
PMCID:
PMC5132090
AbstractArticlePDF–574K
16.
Viable phenotype of ILNEB syndrome without nephrotic impairment in siblings heterozygous for unreported integrin alpha3 mutations
Elisa Adele Colombo, Luigina Spaccini, Ludovica Volpi, Gloria Negri, Davide Cittaro, Dejan Lazarevic, Salvatore Zirpoli, Andrea Farolfi, Cristina Gervasini, Maria Vittoria Cubellis, Lidia Larizza
Orphanet J Rare Dis. 2016; 11: 136. Published online 2016 Oct 7. doi: 10.1186/s13023-016-0514-z
PMCID:
PMC5054609
AbstractArticlePDF–2.5M
17.
Allele-specific silencing of EEC p63 mutant R304W restores p63 transcriptional activity
F Novelli, A M Lena, E Panatta, W Nasser, R Shalom-Feuerstein, E Candi, G Melino
Cell Death Dis. 2016 May; 7(5): e2227. Published online 2016 May 19. doi: 10.1038/cddis.2016.118
PMCID:
PMC4917656
AbstractArticlePDF–2.0M
18.
Molecular basis of hypohidrotic ectodermal dysplasia: an update
Wieslaw H. Trzeciak, Ryszard Koczorowski
J Appl Genet. 2016; 57: 51–61. Published online 2015 Aug 21. doi: 10.1007/s13353-015-0307-4
PMCID:
PMC4731439
AbstractArticlePDF–966K
19.
Hair shaft structures in EDAR induced ectodermal dysplasia
C. Stecksén-Blicks, C. Falk Kieri, D. Hägg, M. Schmitt-Egenolf
BMC Med Genet. 2015; 16: 79. Published online 2015 Sep 4. doi: 10.1186/s12881-015-0227-5
PMCID:
PMC4560089
AbstractArticlePDF–789K
20.
A genome-wide association study identifies multiple loci for variation in human ear morphology
Kaustubh Adhikari, Guillermo Reales, Andrew J. P. Smith, Esra Konka, Jutta Palmen, Mirsha Quinto-Sanchez, Victor Acuña-Alonzo, Claudia Jaramillo, William Arias, Macarena Fuentes, María Pizarro, Rodrigo Barquera Lozano, Gastón Macín Pérez, Jorge Gómez-Valdés, Hugo Villamil-Ramírez, Tábita Hunemeier, Virginia Ramallo, Caio C. Silva de Cerqueira, Malena Hurtado, Valeria Villegas, Vanessa Granja, Carla Gallo, Giovanni Poletti, Lavinia Schuler-Faccini, Francisco M. Salzano, Maria- Cátira Bortolini, Samuel Canizales-Quinteros, Francisco Rothhammer, Gabriel Bedoya, Rosario Calderón, Javier Rosique, Michael Cheeseman, Mahmood F. Bhutta, Steve E. Humphries, Rolando Gonzalez-José, Denis Headon, David Balding, Andrés Ruiz-Linares
Nat Commun. 2015; 6: 7500. Published online 2015 Jun 24. doi: 10.1038/ncomms8500
PMCID:
PMC4491814
AbstractArticlePDF–2.9M

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Filter your results:

Find related data

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
You are here: NCBI > Literature > PubMed Central (PMC)
Support Center