Works about SKIN disease genetics

Results: 864

Grover's disease (Sudoriferous variant) with pachyonychia congenita: first reported case.

Published in:

Journal of the Egyptian Women's Dermatologic Society, 2025, v. 22, n. 2, p. 160, doi. 10.4103/jewd.jewd_56_24

By:

El-Enany, Galal;
Nagui, Noha;
Nada, Hanan;
El-Nabarawy, Eman A.;
Sany, Iman;
Metwally, Youmna A.;
Salem, Manar S.;
Korany, Mona M.

Publication type:

Article

Pediatric photosensitivity.

Published in:

Photodermatology, Photoimmunology & Photomedicine, 2012, v. 28, n. 4, p. 174, doi. 10.1111/j.1600-0781.2012.00670.x

By:

Grossberg, Anna L.

Publication type:

Article

Summer eczema in exported Icelandic horses: influence of environmental and genetic factors.

Published in:

Acta Veterinaria Scandinavica, 2016, p. 1, doi. 10.1186/1751-0147-48-3

By:

Björnsdóttir, Sigríður;
Sigvaldadóttir, Jakobína;
Broström, Hans;
Langvad, Birgitte;
Sigurðsson, Ágúst

Publication type:

Article

Rothmund-Thomson Syndrome: novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) gene.

Published in:

Molecular Genetics & Genomic Medicine, 2016, v. 4, n. 3, p. 359, doi. 10.1002/mgg3.209

By:

Suter, Aude‐Annick;
Itin, Peter;
Heinimann, Karl;
Ahmed, Munaza;
Ashraf, Tazeen;
Fryssira, Helen;
Kini, Usha;
Lapunzina, Pablo;
Miny, Peter;
Sommerlund, Mette;
Suri, Mohnish;
Vaeth, Signe;
Vasudevan, Pradeep;
Gallati, Sabina

Publication type:

Article

Down‐regulated SHARPIN may accelerate the development of atopic dermatitis through activating interleukin‐33/ST2 signalling.

Published in:

Experimental Dermatology, 2018, v. 27, n. 12, p. 1328, doi. 10.1111/exd.13784

By:

Tang, Lingjie;
Wang, Jiaman;
Zhu, Jingna;
Liang, Yanhua

Publication type:

Article

The expression and function of galectins in skin physiology and pathology.

Published in:

Experimental Dermatology, 2018, v. 27, n. 3, p. 217, doi. 10.1111/exd.13512

By:

Nan-Lin Wu;
Fu-Tong Liu

Publication type:

Article

RNA-based therapies for genodermatoses.

Published in:

Experimental Dermatology, 2017, v. 26, n. 1, p. 3, doi. 10.1111/exd.13141

By:

Bornert, Olivier;
Peking, Patricia;
Bremer, Jeroen;
Koller, Ulrich;
Akker, Peter C.;
Aartsma‐Rus, Annemieke;
Pasmooij, Anna M. G.;
Murauer, Eva M.;
Nyström, Alexander

Publication type:

Article

Do shoot the messenger: Taking aim at RNA to treat genetic skin disorders.

Published in:

Experimental Dermatology, 2017, v. 26, n. 1, p. 22, doi. 10.1111/exd.13218

By:

van Steensel, Maurice A.M.

Publication type:

Article

Decreased expression of activin A receptor 1C may result in Ca2+-induced aberrant skin hypersensitivity.

Published in:

Experimental Dermatology, 2016, v. 25, n. 5, p. 402, doi. 10.1111/exd.12956

By:

Kim, Eun Ju;
Lee, Dong Hun;
Kim, Yeon Kyung;
Lee, Young Mee;
Eun, Hee Chul;
Chung, Jin Ho

Publication type:

Article

Identification of two rare and novel large deletions in ITGB4 gene causing epidermolysis bullosa with pyloric atresia.

Published in:

Experimental Dermatology, 2016, v. 25, n. 4, p. 269, doi. 10.1111/exd.12938

By:

Mencía, Ángeles;
García, Marta;
García, Eva;
Llames, Sara;
Charlesworth, Alexandra;
Lucas, Raúl;
Vicente, Asunción;
Trujillo‐Tiebas, María José;
Coto, Pablo;
Costa, Marta;
Vera, Ángel;
López‐Pestaña, Arantxa;
Murillas, Rodolfo;
Meneguzzi, Guerrino;
Jorcano, José Luis;
Conti, Claudio J;
Escámez Toledano, María José;
Río Nechaevsky, Marcela

Publication type:

Article

Phenotypic variation in epidermolytic ichthyosis: clinical and functional evaluation of the novel p.(Met339Lys) mutation in the L12 domain of KRT1.

Published in:

2015

By:

Nellen, Ruud G. L.;
Nagtzaam, Ivo F.;
Hoogeboom, A. Jeannette M.;
Bladergroen, Reno S.;
Jonkman, Marcel F.;
Steijlen, Peter M.;
Steensel, Maurice A. M.;
Geel, Michel

Publication type:

Case Study

Autosomal-dominant cutis laxa resulting from an intronic mutation in ELN.

Published in:

2015

By:

Vodo, Dan;
Sarig, Ofer;
Peled, Alon;
Frydman, Moshe;
Greenberger, Shoshi;
Sprecher, Eli

Publication type:

Case Study

Keratins: the hair shaft's backbone revealed.

Published in:

Experimental Dermatology, 2015, v. 24, n. 6, p. 416, doi. 10.1111/exd.12654

By:

Ramot, Yuval;
Zlotogorski, Abraham

Publication type:

Article

Therapies for inherited skin fragility disorders.

Published in:

Experimental Dermatology, 2015, v. 24, n. 5, p. 325, doi. 10.1111/exd.12666

By:

Has, Cristina;
Kiritsi, Dimitra

Publication type:

Article

Novel TGM5 mutations in acral peeling skin syndrome.

Published in:

Experimental Dermatology, 2015, v. 24, n. 4, p. 285, doi. 10.1111/exd.12650

By:

Velden, Jaap J. A. J.;
Geel, Michel;
Nellen, Ruud G. L.;
Jonkman, Marcel F.;
McGrath, John A.;
Nanda, Arti;
Sprecher, Eli;
Steensel, Maurice A. M.;
McLean, W. H. Irwin;
Cassidy, Andrew J.

Publication type:

Article

Lipoid proteinosis: phenotypic heterogeneity in Iranian families with c.507delT mutation in ECM1.

Published in:

Experimental Dermatology, 2015, v. 24, n. 3, p. 220, doi. 10.1111/exd.12620

By:

Youssefian, Leila;
Vahidnezhad, Hassan;
Daneshpazhooh, Maryam;
Abdollahzadeh, Sina;
Talari, Hamidreza;
Khoshnevisan, Alireza;
Chams‐Davatchi, Cheyda;
Mobasher, Roozbeh;
Li, Qiaoli;
Uitto, Jouni;
Akhondzadeh, Shahin;
Tabrizi, Mina

Publication type:

Article

Gene therapy: pursuing restoration of dermal adhesion in recessive dystrophic epidermolysis bullosa.

Published in:

Experimental Dermatology, 2014, v. 23, n. 1, p. 1, doi. 10.1111/exd.12246

By:

Cutlar, Lara;
Greiser, Udo;
Wang, Wenxin

Publication type:

Article

Inflammatory peeling skin syndrome caused by homozygous genomic deletion in the PSORS1 region encompassing the CDSN gene.

Published in:

Experimental Dermatology, 2014, v. 23, n. 1, p. 60, doi. 10.1111/exd.12292

By:

Ishida‐Yamamoto, Akemi;
Furio, Laetitia;
Igawa, Satomi;
Honma, Masaru;
Tron, Elodie;
Malan, Valerie;
Murakami, Masamoto;
Hovnanian, Alain

Publication type:

Article

Keratinocyte cell lines derived from severe generalized recessive Epidermolysis Bullosa patients carrying a highly recurrent COL7A1 homozygous mutation: models to assess cell and gene therapies in vitro and in vivo.

Published in:

Experimental Dermatology, 2013, v. 22, n. 9, p. 601, doi. 10.1111/exd.12203

By:

Chamorro, Cristina;
Almarza, David;
Duarte, Blanca;
Llames, Sara G.;
Murillas, Rodolfo;
García, Marta;
Cigudosa, Juan C.;
Espinosa‐Hevia, Luis;
Escámez, Maria José;
Mencía, Ángeles;
Meana, Álvaro;
García‐Escudero, Ramón;
Moro, Rosa;
Conti, Claudio J.;
Del Río, Marcela;
Larcher, Fernando

Publication type:

Article

A blueprint for staging of murine melanocytic lesions based on the Cdk4 R24C/R24C ::Tyr- NRAS Q 61K model.

Published in:

Experimental Dermatology, 2012, v. 21, n. 9, p. 676, doi. 10.1111/j.1600-0625.2012.01543.x

By:

Wurm, Elisabeth M.T.;
Lin, Lynlee L.;
Ferguson, Blake;
Lambie, Duncan;
Prow, Tarl W.;
Walker, Graeme J.;
Soyer, H. Peter

Publication type:

Article

The human epidermal differentiation complex: cornified envelope precursors, S100 proteins and the 'fused genes' family.

Published in:

Experimental Dermatology, 2012, v. 21, n. 9, p. 643, doi. 10.1111/j.1600-0625.2012.01472.x

By:

Kypriotou, Magdalini;
Huber, Marcel;
Hohl, Daniel

Publication type:

Article

The antimicrobial peptide pheromone Plantaricin A increases antioxidant defenses of human keratinocytes and modulates the expression of filaggrin, involucrin, β-defensin 2 and tumor necrosis factor-α genes.

Published in:

Experimental Dermatology, 2012, v. 21, n. 9, p. 665, doi. 10.1111/j.1600-0625.2012.01538.x

By:

Marzani, Barbara;
Pinto, Daniela;
Minervini, Fabio;
Calasso, Maria;
Di Cagno, Raffaella;
Giuliani, Giammaria;
Gobbetti, Marco;
Angelis, Maria

Publication type:

Article

MC1R variation and melanoma risk in relation to host/clinical and environmental factors in CDKN2A positive and negative melanoma patients.

Published in:

Experimental Dermatology, 2012, v. 21, n. 9, p. 718, doi. 10.1111/j.1600-0625.2012.01549.x

By:

Ghiorzo, Paola;
Bonelli, Luigina;
Pastorino, Lorenza;
Bruno, William;
Barile, Monica;
Andreotti, Virginia;
Nasti, Sabina;
Battistuzzi, Linda;
Grosso, Marco;
Bianchi-Scarrà, Giovanna;
Queirolo, Paola

Publication type:

Article

Progress towards genetic and pharmacological therapies for keratin genodermatoses: current perspective and future promise.

Published in:

Experimental Dermatology, 2012, v. 21, n. 7, p. 481, doi. 10.1111/j.1600-0625.2012.01534.x

By:

Chamcheu, Jean Christopher;
Wood, Gary S.;
Siddiqui, Imtiaz A.;
Syed, Deeba N.;
Adhami, Vaqar M.;
Teng, Joyce M.;
Mukhtar, Hasan

Publication type:

Article

Epidermolysis bullosa - a group of skin diseases with different causes but commonalities in gene expression.

Published in:

Experimental Dermatology, 2012, v. 21, n. 7, p. 526, doi. 10.1111/j.1600-0625.2012.01519.x

By:

Knaup, Julia;
Verwanger, Thomas;
Gruber, Christina;
Ziegler, Verena;
Bauer, Johann W.;
Krammer, Barbara

Publication type:

Article

Comedonal Darier's Disease Diagnosed Incidentally In A Patient Undergoing A Routine Skin Examination for Sun Cancer.

Published in:

Australasian Journal of Dermatology, 2014, v. 55, n. 3, p. 237, doi. 10.1111/ajd.12134

By:

Buchanan, Lauren;
Strutton, Geoff

Publication type:

Article

Detection of novel LAMA3 mutation in Herlitz junctional epidermolysis bullosa in a Jordanian family.

Published in:

Australasian Journal of Dermatology, 2013, v. 54, n. 3, p. 218, doi. 10.1111/j.1440-0960.2012.00945.x

By:

Badran, Eman F.;
Battah, Hamdi A.;
Akl, Kamal F;
Khalil, Raida W.;
Al Amori, Iyad

Publication type:

Article

Ectodermal dysplasia-skin fragility syndrome due to a new homozygous internal deletion mutation in the PKP1 gene.

Published in:

Australasian Journal of Dermatology, 2012, v. 53, n. 1, p. 61, doi. 10.1111/j.1440-0960.2011.00846.x

By:

Boyce, Aaron E;
McGrath, John A;
Techanukul, Tanasit;
Murrell, Dédée F;
Chow, Chung Wo;
McGregor, Lesley;
Warren, Lachlan J

Publication type:

Article

Muir–Torre syndrome: Diagnostic and screening guidelines.

Published in:

Australasian Journal of Dermatology, 2006, v. 47, n. 4, p. 266, doi. 10.1111/j.1440-0960.2006.00292.x

By:

Jones, Brad;
Oh, Carol;
Mangold, Elisabeth;
Egan, Conleth A.

Publication type:

Article

Atlas of Genodermatoses.

Published in:

2006

By:

Wargon, Orli

Publication type:

Book Review

Keratosis follicularis spinulosa decalvans and acne keloidalis nuchae.

Published in:

Australasian Journal of Dermatology, 2005, v. 46, n. 4, p. 257, doi. 10.1111/j.1440-0960.2005.00196.x

By:

Goh, Michelle S. Y.;
Magee, Jill;
Chong, Alvin H.

Publication type:

Article

CASE REPORT Inverted follicular keratosis simulating malignant melanoma.

Published in:

Australasian Journal of Dermatology, 2004, v. 45, n. 1, p. 55, doi. 10.1111/j.1440-0960.2004.00032.x

By:

Thom, Graham A.;
Quirk, Christopher J.;
Heenan, Peter J.

Publication type:

Article

Pedigree of multiple benign adnexal tumours of Brooke–Spiegler type.

Published in:

Australasian Journal of Dermatology, 2003, v. 44, n. 2, p. 144, doi. 10.1046/j.1440-0960.2003.00663.x

By:

Saunders, Helen;
Tucker, Paul;
Saurine, Tricia;
Watkins, Frances

Publication type:

Article

RETICULATE PIGMENTED ANOMALY OF THE FLEXURES OF BOWLING DEGOS DISEASE.

Published in:: Australasian Journal of Dermatology, 1991, v. 32, n. 2, p. 120, doi. 10.1111/j.1440-0960.1991.tb00080.x
Publication type:: Article

CONGENITAL AND GENETIC SKIN DISORDERS WITH TUMOUR FORMATION.

Published in:

Australasian Journal of Dermatology, 1975, v. 16, n. 3, p. 95, doi. 10.1111/j.1440-0960.1975.tb00562.x

By:

Reed, William B.

Publication type:

Article

Clinical Comparisons Between Topical Steroids in Self-Penetrating Bases.

Published in:

Australasian Journal of Dermatology, 1969, v. 10, n. 3, p. 148, doi. 10.1111/j.1440-0960.1969.tb01184.x

By:

Stahle, Lan O.

Publication type:

Article

PSEUDOXANTHOMA ELASTICUM.

Published in:

Australasian Journal of Dermatology, 1958, v. 4, n. 4, p. 199, doi. 10.1111/j.1440-0960.1958.tb01556.x

By:

Hislop, J. G.;
Lamb, Adrian;
Joske, R. A.

Publication type:

Article

Mutation p.Leu128Pro in the 1A domain of K16 causes pachyonychia congenita with focal palmoplantar keratoderma in a Chinese family.

Published in:

European Journal of Pediatrics, 2014, v. 173, n. 6, p. 737, doi. 10.1007/s00431-013-2236-8

By:

Dai, Limeng;
Wu, Jun;
Guo, Hong;
Huang, Yangming;
Zhang, Kun;
Liu, Dan;
Fu, Liyuan;
Wu, Yuanyuan;
Guan, Xingying;
Bai, Yun;
Liao, Qiong

Publication type:

Article

Incontinentia pigmenti (Bloch-Siemens syndrome).

Published in:

European Journal of Pediatrics, 2013, v. 172, n. 8, p. 1137, doi. 10.1007/s00431-013-1982-y

By:

Zhang, Yaqin;
Pyla, Venkatesh;
Cong, Xianling

Publication type:

Article

Genodermatoses caused by genetic mosaicism.

Published in:

European Journal of Pediatrics, 2012, v. 171, n. 12, p. 1725, doi. 10.1007/s00431-012-1855-9

By:

Vreeburg, M.;
Steensel, M.

Publication type:

Article

A rare case of Kindler's syndrome associated with multiple eruptive melanocytic nevi.

Published in:

2017

By:

Arif, Tasleem;
Adil, Mohammad;
Amin, Syed Suhail;
Dorjay, Konchok

Publication type:

Letter to the Editor

Sporadic dyschromatosis universalis hereditaria: A rare case report.

Published in:

Indian Journal of Paediatric Dermatology, 2017, v. 18, n. 1, p. 43, doi. 10.4103/2319-7250.193025

By:

Manchanda, Shweta;
Arora, Ravish;
Lingaraj, M. M.

Publication type:

Article

Michelin tire baby syndrome.

Published in:

2016

By:

Vora, Rita V.;
Pilani, Abhishek P.;
Diwan, Nilofar G.;
S., RahulKrishna

Publication type:

Case Study

Incontinentia pigmenti in a male neonate.

Published in:

2015

By:

Gandhi, Vijay;
Dhawan, Amit Kumar;
Bisherwal, Kavita;
Arora, V. K.

Publication type:

Case Study

Pigmented xerodermoid.

Published in:

2015

By:

Deb, Samujjala;
Dhar, Sandipan

Publication type:

Case Study

A comprehensive classification and abbreviated update of neonatal dermatological entities.

Published in:

Indian Journal of Paediatric Dermatology, 2015, v. 16, n. 3, p. 122, doi. 10.4103/2319-7250.160666

By:

Sharma, Yugal K.;
Sadana, Dinkar J.;
Rizvi, Alia;
Dash, Kedarnath

Publication type:

Article

The role of patient (parent) education and counseling in pediatric dermatology practice.

Published in:

Indian Journal of Paediatric Dermatology, 2015, v. 16, n. 3, p. 117, doi. 10.4103/2319-7250.160662

By:

Deb, Samujjala;
Dhar, Sandipan;
Parikh, Deepak

Publication type:

Article

Keratoderma hereditarium mutilans (Vohwinkel's syndrome).

Published in:

2015

By:

Rambhia, Sweta Hasmukh;
Raj, Niranjana;
Madan, Madhu Suguna;
Prakash, Bhanu

Publication type:

Case Study

Congenital atrichia with papular lesions.

Published in:

2014

By:

Verma, Rajesh;
Vasudevan, Biju;
Pragasam, Vijendran;
Badad, Ambresh;
Mitra, Debdeep;
Neema, Shekhar

Publication type:

Case Study

Comprehensive and novel dental management of a child with epidermolysis bullosa.

Published in:

2014

By:

Avula Jogendra, Sai Sankar;
Akurati, Ratna Aditya;
Jai Shankar, Pratap Gowd Margana;
Chowdhary Kopuri, Raj Kumar

Publication type:

Case Study