Clinical and pathological features of pachyonychia congenita.
about
Epithelial Intermediate Filaments: Guardians against Microbial Infection?New described dermatological disordersGenodermatosesDiffuse and focal palmoplantar keratoderma can be caused by a keratin 6c mutationKeratin 16 regulates innate immunity in response to epidermal barrier breachGenotype-phenotype correlations among pachyonychia congenita patients with K16 mutationsIn vivo imaging of human and mouse skin with a handheld dual-axis confocal fluorescence microscope.siRNA silencing of keratinocyte-specific GFP expression in a transgenic mouse skin model.First-in-human mutation-targeted siRNA phase Ib trial of an inherited skin disorder.Pachyonychia congenita with laryngeal obstruction.Silencing of reporter gene expression in skin using siRNAs and expression of plasmid DNA delivered by a soluble protrusion array device (PAD)The expanding significance of keratin intermediate filaments in normal and diseased epitheliaPachyonychia congenita-associated alopecia.Natal teeth: Case report and review of literature.Gene expression profiling in pachyonychia congenita skinJosef Jadassohn (1863-1936), Felix Lewandowsky (1879-1921), and their syndromeNon-Invasive Intravital Imaging of siRNA-Mediated Mutant Keratin Gene Repression in Skin.Keratin 16-null mice develop palmoplantar keratoderma, a hallmark feature of pachyonychia congenita and related disorders.Laryngeal manifestations of pachyonychia congenita: a clinical case and discussion on management for the otolaryngologist.Co-clustering phenome-genome for phenotype classification and disease gene discovery.Keratin 12 missense mutation induces the unfolded protein response and apoptosis in Meesmann epithelial corneal dystrophy.Disorders of keratinisation: from rare to common genetic diseases of skin and other epithelial tissues.Hedgehog signaling, keratin 6 induction, and sebaceous gland morphogenesis: implications for pachyonychia congenita and related conditionsGenetically engineered mouse models for skin research: taking the next stepPachyonychia congenita: A rare genodermatosisTherapeutic siRNAs for dominant genetic skin disorders including pachyonychia congenita.[Pachyonychia congenita associated with renal artery stenosis and bronchiectasis].Keratin 9 is required for the structural integrity and terminal differentiation of the palmoplantar epidermis.Expression of keratins in cutaneous epithelial tumors and related disorders--distribution and clinical significance.Keratinization and its disorders.Diseases of the tooth: the genetic and molecular basis of inherited anomalies affecting the dentition.SiRNA-mediated selective inhibition of mutant keratin mRNAs responsible for the skin disorder pachyonychia congenita.Pachyonychia Congenita: Brief Appraisal of History and Current ClassificationA case of pachyonychia congenita with unusual manifestations: an unusual type or a new syndrome?Jadassohn Lewandowsky Syndrome: A Rare EntityPachyonychia congenita with late onset (PC tarda)Onychogryphosis in tuberous sclerosis complex: an unusual feature.Pachyonychia congenita tarda: A rare case report.Mutation p.Leu128Pro in the 1A domain of K16 causes pachyonychia congenita with focal palmoplantar keratoderma in a Chinese family.Transgrediens pachyonychia congenita (PC): case series of a nonclassical PC presentation.
P2860
Q26864990-F144A6B5-DA7A-4580-9EFD-CCED44029698Q27013952-B5A87529-9CBA-452E-B5A5-DF09F20B1D74Q28080904-54EAB9FD-A377-4D89-999C-F4F746DBE834Q28244442-106F44D1-CA80-4E95-B7D4-2E616E0C0C36Q28592667-A7092C78-92BC-458D-B8D8-46CF9EBBBFDBQ30397462-1D32D21F-E77A-4EB8-9870-261533432AD3Q30557750-4416038C-1BA6-43B8-95CF-10910A353EF3Q33454280-932009DF-1F1D-4D93-BFDD-035B7237EFA4Q33730680-0A1F1202-EEF0-4F37-B3F2-16EFBBBFE640Q33893164-576BFAD9-6629-41B9-A016-A2D9C3EC0780Q34209790-99300900-D9AE-419F-A242-84A3804BF050Q34319779-69B52B7A-DAAF-4DF8-AC56-B73B66A19D53Q34443145-9700D906-51A2-4675-888D-B84621D3F352Q35184037-86E9CEBC-78BC-4F84-AA44-11AB40EA811CQ35217762-502E60D6-788A-4A3B-BCE3-D8EE34248F0BQ35671489-EA9788CE-1B14-4A3E-8C67-0AAEEEEB701FQ35689975-EE6ADFE2-D552-4683-B2D0-F1B5FE0FDEC2Q35888443-85BA25E8-4986-4F93-B22F-D94BB0C057A8Q36168699-30F8183D-9011-4036-93E0-D2C61171AC22Q36341451-035C2B36-07E2-4A6E-89A1-1BA21D7C76A4Q36608872-8CDB478C-D7C8-40B6-B10E-955587DC5FCCQ36809911-566A9587-ABFB-401D-AF1B-9ACBE3D34A74Q36855698-618E2845-AA00-4182-9C5B-33E25F9A2D2DQ36982414-326A8BA7-0479-491E-9E01-648D4B39456FQ37118590-BF6D2132-2251-4D7F-A6C4-D26BAD2403D4Q37169944-E9824746-0C0E-4786-844E-EBC123AAD437Q37354681-90868513-0E72-46FB-ABCA-ED164DD66230Q37581752-DF351A7B-20C9-4570-9AB4-E51DEE06A417Q37842671-FE058DB0-B9CA-4CA5-AA29-58623D71ADB4Q38052906-92318F28-5CDC-4E07-B81E-342D31EE0089Q38134658-6DE2C2D4-B81F-43E5-BE7C-63B8ED74C183Q40200686-E1A7EDBA-D15E-4A7F-B4A9-6DD31ADFE08FQ41068341-4CA3F9ED-9D8D-4B5A-9982-7F16750F4452Q41352325-8B170361-E01C-4663-8884-FF6D6F1097B6Q41773809-C0941E98-9A95-424B-9DA5-E0C165385BF6Q41854403-70B2C570-8301-4DD3-BC43-5C42E4B562CAQ42319965-DD702C44-707A-4F68-9CCD-E6E37FF309DDQ42657126-EE8727EF-573A-432D-A66A-DA5DDFAF2269Q43564335-D8582067-7D24-4360-ACF3-9F43A1E4A3C3Q44342114-9EB8F28A-1658-4452-A539-3A28B5852682
P2860
Clinical and pathological features of pachyonychia congenita.
description
2005 nî lūn-bûn
@nan
2005年の論文
@ja
2005年学术文章
@wuu
2005年学术文章
@zh-cn
2005年学术文章
@zh-hans
2005年学术文章
@zh-my
2005年学术文章
@zh-sg
2005年學術文章
@yue
2005年學術文章
@zh
2005年學術文章
@zh-hant
name
Clinical and pathological features of pachyonychia congenita.
@ast
Clinical and pathological features of pachyonychia congenita.
@en
type
label
Clinical and pathological features of pachyonychia congenita.
@ast
Clinical and pathological features of pachyonychia congenita.
@en
prefLabel
Clinical and pathological features of pachyonychia congenita.
@ast
Clinical and pathological features of pachyonychia congenita.
@en
P2093
P1476
Clinical and pathological features of pachyonychia congenita.
@en
P2093
Aleksej Kansky
Colin S Munro
Declan P Lunny
E Birgitte Lane
Edel A O'Toole
Frances J D Smith
Julide T Celebi
Leonard M Milstone
Maurice A M van Steensel
Philip Fleckman
P356
10.1111/J.1087-0024.2005.10202.X
P577
2005-10-01T00:00:00Z
P5875
P6179
1030407397