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The tumor suppressor folliculin regulates AMPK-dependent metabolic transformation.
- Published in:
- Journal of Clinical Investigation, 2014, v. 124, n. 6, p. 2640, doi. 10.1172/JCI71749
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- Publication type:
- Article
Combined germline pathogenic variants in FLCN and TP53 are associated with early onset renal cell carcinoma and brain tumors.
- Published in:
- Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 2, p. 1, doi. 10.1002/mgg3.2098
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- Publication type:
- Article
Author Correction: Lrig1-expressing epidermal progenitors require SCD1 to maintain the dermal papilla niche.
- Published in:
- 2023
- By:
- Publication type:
- Correction Notice
Lrig1-expressing epidermal progenitors require SCD1 to maintain the dermal papilla niche.
- Published in:
- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-30411-7
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- Publication type:
- Article
Huriez syndrome: Additional pathogenic variants supporting allelism to SMARCAD syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 6, p. 1752, doi. 10.1002/ajmg.a.62703
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- Publication type:
- Article
Review of familial cerebral cavernous malformations and report of seven additional families.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 2, p. 338, doi. 10.1002/ajmg.a.38028
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- Publication type:
- Article
Corrigendum: Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis.
- Published in:
- 2009
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- Publication type:
- Correction Notice
Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis.
- Published in:
- Nature Genetics, 2009, v. 41, n. 2, p. 228, doi. 10.1038/ng.276
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- Publication type:
- Article
Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema.
- Published in:
- Nature Genetics, 2007, v. 39, n. 5, p. 650, doi. 10.1038/ng2020
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- Publication type:
- Article
A rare missense mutation in GJB3 (Cx31G45E) is associated with a unique cellular phenotype resulting in necrotic cell death.
- Published in:
- Experimental Dermatology, 2019, v. 28, n. 10, p. 1106, doi. 10.1111/exd.13542
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- Publication type:
- Article
On the TRAIL to truth, or on a road to nowhere?
- Published in:
- Experimental Dermatology, 2017, v. 26, n. 3, p. 225, doi. 10.1111/exd.13231
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- Publication type:
- Article
Molecular analysis of connexin26 asparagine14 mutations associated with syndromic skin phenotypes.
- Published in:
- Experimental Dermatology, 2011, v. 20, n. 5, p. 408, doi. 10.1111/j.1600-0625.2010.01222.x
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- Publication type:
- Article
Molecular pathways involved in hair follicle tumor formation: all about mammalian target of rapamycin?
- Published in:
- 2009
- By:
- Publication type:
- Other
Diffuse and segmental variants of cutaneous leiomyomatosis: novel mutations in the fumarate hydratase gene and review of the literature.
- Published in:
- Experimental Dermatology, 2006, v. 15, n. 9, p. 735, doi. 10.1111/j.1600-0625.2006.00470.x
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- Publication type:
- Article
Immunohistochemical Analysis of the Mechanistic Target of Rapamycin and Hypoxia Signalling Pathways in Basal Cell Carcinoma and Trichoepithelioma.
- Published in:
- PLoS ONE, 2014, v. 9, n. 9, p. 1, doi. 10.1371/journal.pone.0106427
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- Publication type:
- Article
Topical Rapamycin as a Treatment for Fibrofolliculomas in Birt-Hogg-Dubé Syndrome: A Double-Blind Placebo-Controlled Randomized Split-Face Trial.
- Published in:
- PLoS ONE, 2014, v. 9, n. 6, p. 1, doi. 10.1371/journal.pone.0099071
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- Publication type:
- Article
Epigenetic Changes in Basal Cell Carcinoma Affect SHH and WNT Signaling Components.
- Published in:
- PLoS ONE, 2012, v. 7, n. 12, p. 1, doi. 10.1371/journal.pone.0051710
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- Publication type:
- Article
Comment on Balsamo et al.: Birt-Hogg-Dubé syndrome with simultaneous hyperplastic polyposis of the gastrointestinal tract: case report and review of the literature.
- Published in:
- BMC Medical Genomics, 2022, v. 15, n. 1, p. 1, doi. 10.1186/s12920-022-01229-5
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- Publication type:
- Article
Skin abnormalities in individuals with macrocephaly: Cowden disease from a dermatologist's point of view.
- Published in:
- International Journal of Dermatology, 2008, v. 47, p. 45, doi. 10.1111/j.1365-4632.2008.03960.x
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- Publication type:
- Article
Lymphedema–distichiasis syndrome: a distinct type of primary lymphedema caused by mutations in the FOXC2 gene.
- Published in:
- International Journal of Dermatology, 2008, v. 47, p. 52, doi. 10.1111/j.1365-4632.2008.03962.x
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- Publication type:
- Article
Neonatal Langerhans’ cell histiocytosis: a rare and potentially life-threatening disease.
- Published in:
- International Journal of Dermatology, 2008, v. 47, p. 10, doi. 10.1111/j.1365-4632.2008.03950.x
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- Publication type:
- Article
Lymphedema in Prader–Willi syndrome.
- Published in:
- International Journal of Dermatology, 2008, v. 47, p. 42, doi. 10.1111/j.1365-4632.2008.03959.x
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- Publication type:
- Article
Bullous congenital ichthyosiform erythroderma of Brocq.
- Published in:
- International Journal of Dermatology, 2007, v. 46, p. 36, doi. 10.1111/j.1365-4632.2007.03510.x
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- Publication type:
- Article
Retinoic Acid Metabolism Blocking Agents (RAMBAs): eine neue Option zur Behandlung von Verhornungsstörungen.
- Published in:
- Journal der Deutschen Dermatologischen Gesellschaft, 2008, v. 6, n. 5, p. -1, doi. 10.1111/j.1610-0387.2008.06541_supp.x
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- Publication type:
- Article
Retinoic acid metabolism blocking agents (RAMBAs): a new paradigm in the treatment of hyperkeratotic disorders.
- Published in:
- Journal der Deutschen Dermatologischen Gesellschaft, 2008, v. 6, n. 5, p. 355, doi. 10.1111/j.1610-0387.2007.06541.x
- By:
- Publication type:
- Article
Cutibacteriumacnes: Much ado about maybe nothing much.
- Published in:
- Experimental Dermatology, 2021, v. 30, n. 10, p. 1471, doi. 10.1111/exd.14394
- By:
- Publication type:
- Article
Late Onset of Skin Manifestations in Birt-Hogg-Dubé Syndrome with FLCN Mutation p. W260X.
- Published in:
- 2012
- By:
- Publication type:
- Case Study
An Unusual Missense Mutation in the GJB3 Gene Resulting in Severe Erythrokeratodermia Variabilis.
- Published in:
- 2011
- By:
- Publication type:
- Case Study
T-cell Large Granular Lymphocytic Leukaemia with an Uncommon Clinical and Immunological Phenotype.
- Published in:
- Acta Dermato-Venereologica, 2009, v. 89, n. 2, p. 172, doi. 10.2340/00015555-0589
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- Publication type:
- Article
The R439C mutation in LMNA causes lamin oligomerization and susceptibility to oxidative stress.
- Published in:
- Journal of Cellular & Molecular Medicine, 2009, v. 13, n. 5, p. 959, doi. 10.1111/j.1582-4934.2009.00690.x
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- Publication type:
- Article
A Case of Juvenile Bullous Pemphigoid— Successful Treatment with Diaminodiphenylsulfone and Prednisone.
- Published in:
- Pediatric Dermatology, 2009, v. 26, n. 1, p. 55, doi. 10.1111/j.1525-1470.2008.00822.x
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- Publication type:
- Article
Comment on Zhao et al. "Palmoplantar Keratoderma of the Gamborg-Nielsen Type is Caused by Mutations in the SLURP1 Gene and Represents a Variant of Mal de Meleda".
- Published in:
- 2015
- By:
- Publication type:
- Letter to the Editor
Report of the 10th Annual International Pachyonychia Congenita Consortium Meeting.
- Published in:
- Journal of Investigative Dermatology, 2014, v. 134, n. 3, p. 588, doi. 10.1038/jid.2013.392
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- Publication type:
- Article
Porokeratotic Eccrine Nevus May Be Caused by Somatic Connexin26 Mutations.
- Published in:
- Journal of Investigative Dermatology, 2012, v. 132, n. 9, p. 2184, doi. 10.1038/jid.2012.143
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- Publication type:
- Article
Pathogenesis-Based Therapy Reverses Cutaneous Abnormalities in an Inherited Disorder of Distal Cholesterol Metabolism.
- Published in:
- Journal of Investigative Dermatology, 2011, v. 131, n. 11, p. 2242, doi. 10.1038/jid.2011.189
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- Publication type:
- Article
A Missense Mutation in TGM5 Causes Acral Peeling Skin Syndrome in a Tunisian Family.
- Published in:
- Journal of Investigative Dermatology, 2009, v. 129, n. 10, p. 2512, doi. 10.1038/jid.2009.118
- By:
- Publication type:
- Article
Functional Analysis of FLT4 Mutations Associated with Nonne–Milroy Lymphedema.
- Published in:
- 2009
- By:
- Publication type:
- Letter
Loss of Heterozygosity Studies on Chromosome 12q in Disseminated Superficial Actinic Porokeratosis: Lessons to be Learned.
- Published in:
- 2007
- By:
- Publication type:
- Letter
Novel Mutations in the BHD Gene and Absence of Loss of Heterozygosity in Fibrofolliculomas of Birt-Hogg-Dubé Patients.
- Published in:
- Journal of Investigative Dermatology, 2007, v. 127, n. 3, p. 588, doi. 10.1038/sj.jid.5700592
- By:
- Publication type:
- Article
Monoclonal Origin of Anatomically Distinct Basal Cell Carcinomas: Is there Really Hard Evidence at Hand?
- Published in:
- 2006
- By:
- Publication type:
- Letter
Mutation S233L in the 1B Domain of Keratin 1 Causes Epidermolytic Palmoplantar Keratoderma with “Tonotubular” Keratin.
- Published in:
- Journal of Investigative Dermatology, 2006, v. 126, n. 3, p. 607, doi. 10.1038/sj.jid.5700152
- By:
- Publication type:
- Article
Lamin Processing Comes of Age.
- Published in:
- 2005
- By:
- Publication type:
- Editorial
Does Recessive EKV Exist?
- Published in:
- 2005
- By:
- Publication type:
- Letter
A Phenotype Resembling the Clouston Syndrome with Deafness Is Associated with a Novel Missense GJB2 Mutation.
- Published in:
- 2004
- By:
- Publication type:
- Letter
A Novel Connexin 26 Mutation in a Patient Diagnosed with Keratitis–Ichthyosis–Deafness Syndrome.
- Published in:
- Journal of Investigative Dermatology, 2002, v. 118, n. 4, p. 724, doi. 10.1046/j.1523-1747.2002.01735.x
- By:
- Publication type:
- Article
Expression and knockdown of zebrafish folliculin suggests requirement for embryonic brain morphogenesis.
- Published in:
- BMC Developmental Biology, 2016, v. 16, p. 1, doi. 10.1186/s12861-016-0119-8
- By:
- Publication type:
- Article
Connexin mimetic peptides improve cell migration rates of human epidermal keratinocytes and dermal fibroblasts in vitro.
- Published in:
- Wound Repair & Regeneration, 2009, v. 17, n. 2, p. 240, doi. 10.1111/j.1524-475X.2009.00471.x
- By:
- Publication type:
- Article
An unusual N-terminal deletion of the laminin α3a isoform leads to the chronic granulation tissue disorder laryngo-onycho-cutaneous syndrome.
- Published in:
- Human Molecular Genetics, 2004, v. 13, n. 3, p. 365
- By:
- Publication type:
- Article
An unusual N-terminal deletion of the laminin α3a isoform leads to the chronic granulation tissue disorder laryngo-onycho-cutaneous syndrome.
- Published in:
- Human Molecular Genetics, 2003, v. 12, n. 18, p. 2395, doi. 10.1093/hmg/ddg234
- By:
- Publication type:
- Article
Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1).
- Published in:
- Human Molecular Genetics, 2002, v. 11, n. 7, p. 833, doi. 10.1093/hmg/11.7.833
- By:
- Publication type:
- Article