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Genodermatoses

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https://www.readbyqxmd.com/read/28892093/rapid-generation-of-col7a1-mouse-model-of-recessive-dystrophic-epidermolysis-bullosa-and-partial-rescue-via-immunosuppressive-dermal-mesenchymal-stem-cells
#1
Beau R Webber, Kyle T O'Connor, Ron T McElmurry, Elise N Durgin, Cindy R Eide, Christopher J Lees, Megan J Riddle, Wendy E Mathews, Natasha Y Frank, Mark A Kluth, Christoph Ganss, Branden S Moriarity, Markus H Frank, Mark J Osborn, Jakub Tolar
Recessive dystrophic epidermolysis bullosa (RDEB) is a debilitating and ultimately lethal blistering disease caused by mutations to the Col7a1 gene. Development of novel cell therapies for the treatment of RDEB would be fostered by having immunodeficient mouse models able to accept human cell grafts; however, immunodeficient models of many genodermatoses such as RDEB are lacking. To overcome this limitation, we combined the clustered regularly interspaced short palindromic repeats and associated nuclease (CRISPR/Cas9) system with microinjection into NOD/SCID IL2rγc(null) (NSG) embryos to rapidly develop an immunodeficient Col7a1(-/-) mouse model of RDEB...
September 11, 2017: Laboratory Investigation; a Journal of Technical Methods and Pathology
https://www.readbyqxmd.com/read/28831430/analogs-of-human-genetic-skin-disease-in-domesticated-animals
#2
REVIEW
Justin Finch, Stephanie Abrams, Amy Finch
Genetic skin diseases encompass a vast, complex, and ever expanding field. Recognition of the features of these diseases is important to ascertain a correct diagnosis, initiate treatment, consider genetic counseling, and refer patients to specialists when the disease may impact other areas. Because genodermatoses may present with a vast array of features, it can be bewildering to memorize them. This manuscript will explain and depict some genetic skin diseases that occur in both humans and domestic animals and offer a connection and memorization aid for physicians...
September 2017: International Journal of Women's Dermatology
https://www.readbyqxmd.com/read/28782140/dermoscopic-and-reflectance-confocal-microscopic-presentation-of-hailey-hailey-disease-a-case-series
#3
A Oliveira, E Arzberger, B Pimentel, V C de Sousa, P Leal-Filipe
BACKGROUND/PURPOSE: Hailey-Hailey disease is a rare inherited acantholytic skin disorder characterized by heterogeneous clinical presentation. Its differential diagnosis might be wide, including other genodermatoses, inflammatory, and infectious skin diseases. Although histopathology remains as diagnostic gold standard, noninvasive techniques such as dermoscopy and reflectance confocal microscopy may assist clinical examination. Herein, we aim to further characterize the dermoscopic and reflectance confocal microscopic presentation of Hailey-Hailey disease with histologic correlation...
August 7, 2017: Skin Research and Technology
https://www.readbyqxmd.com/read/28627087/familial-seborrhoeic-keratosis-associated-with-multiple-pure-reticulated-acanthomas-and-infundibulocystic-basal-cell-carcinomas
#4
J Agustí, R Bella-Navarro, A B García-García, E Bueno, R González-Sarmiento, L Navarro, B Sanchez-Sendra, A Revert, E Jordá, C Monteagudo
BACKGROUND: A variety of genodermatoses with multiple cutaneous tumors with germline genetic alterations such as Gorlin syndrome with PTCH1 gene mutations have been described. Other cutaneous syndromes have been associated with somatic gene mutations, such as FGFR3 in familial seborrhoeic keratosis. OBJECTIVE: We describe the clinical, dermoscopic, and histopathological features of multiple cutaneous lesions, mostly infundibulocystic basal cell carcinomas and pure reticulated acanthomas, present in a family affected by familial seborrhoeic keratosis...
June 18, 2017: British Journal of Dermatology
https://www.readbyqxmd.com/read/28622433/research-on-genodermatoses-using-novel-genome-editing-tools
#5
REVIEW
Janin Lehmann, Christina Seebode, Steffen Emmert
Genodermatoses comprise a clinically heterogeneous group of mostly devastating disorders affecting the skin. To date, treatment options have in general been limited to symptom relief. However, the recent technical evolution in genome editing has ushered in a new era in the development of causal therapies for rare monogenetic diseases such as genodermatoses. The present review revisits the advantages and drawbacks of engineered nuclease tools currently available: zinc finger nucleases (ZFNs), transcription activator-like effector nucleases (TALENs), meganucleases, and - the most innovative - clustered regularly interspaced short palindromic repeats (CRISPR)-associated (Cas) nuclease 9 (CRISPR/Cas9) system...
August 2017: Journal der Deutschen Dermatologischen Gesellschaft, Journal of the German Society of Dermatology: JDDG
https://www.readbyqxmd.com/read/28575648/mutations-in-sult2b1-cause-autosomal-recessive-congenital-ichthyosis-in-humans
#6
Lisa Heinz, Gwang-Jin Kim, Slaheddine Marrakchi, Julie Christiansen, Hamida Turki, Marc-Alexander Rauschendorf, Mark Lathrop, Ingrid Hausser, Andreas D Zimmer, Judith Fischer
Ichthyoses are a clinically and genetically heterogeneous group of genodermatoses associated with abnormal scaling of the skin over the whole body. Mutations in nine genes are known to cause non-syndromic forms of autosomal-recessive congenital ichthyosis (ARCI). However, not all genetic causes for ARCI have been discovered to date. Using whole-exome sequencing (WES) and multigene panel screening, we identified 6 ARCI-affected individuals from three unrelated families with mutations in Sulfotransferase family 2B member 1 (SULT2B1), showing their causative association with ARCI...
June 1, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28485881/ist-das-bull%C3%A3-se-pemphigoid-eine-verkappte-genodermatose
#7
EDITORIAL
Heiko Traupe
No abstract text is available yet for this article.
May 2017: Journal der Deutschen Dermatologischen Gesellschaft, Journal of the German Society of Dermatology: JDDG
https://www.readbyqxmd.com/read/28447236/the-history-of-an-unknown-dermatological-wax-collection-from-cluj-napoca-university-iuliu-hatieganu-romania
#8
Alexandru-Dumitru Tataru, Dan Tataru, Maria Grazia Roccia, Katlein França, Massimo Fioranelli, Torello Lotti
Among the dermatological wax collections across Europe, one of the latest created is the collection from Cluj-Napoca University, Romania. The initiator was Professor Coriolan Tataru and the moulage artist employed was Dr. Richard Hoffmann. Between the years 1923 and 1928, around 200 wax moulages were made, all realised after patients hospitalised in the clinic. The majority of cases represent the dermatological infectious pathology of that time: syphilis, cutaneous tuberculosis and mycetomas. Other interesting moulages represent genodermatoses, pelagra, different cutaneous cancers, and atypical aspects of common diseases like psoriasis and eczemas...
April 26, 2017: Wiener Medizinische Wochenschrift
https://www.readbyqxmd.com/read/28421730/facies-the-value-of-an-old-diagnostic-tip-in-pediatric-dermatology
#9
Carmelo Schepis, Corrado Romano
The authors examine what's meant as facies in medicine. After an introduction to the word's understanding, they move on listing some dermatological conditions associated to peculiar facies in the child. Starting from atopic dermatitis, the authors develop an algorithm including Genodermatoses, Neurocutaneous Disorders, and Multiple Congenital Anomalies Syndromes. They emphasize the distinctive features of the lesions on the face and their fundamental diagnostic importance.
April 19, 2017: Giornale Italiano di Dermatologia e Venereologia: Organo Ufficiale, Società Italiana di Dermatologia e Sifilografia
https://www.readbyqxmd.com/read/28411849/the-molecular-revolution-in-cutaneous-biology-keratin-genes-and-their-associated-disease-diversity-opportunities-and-challenges
#10
REVIEW
Pierre A Coulombe
The abundance of keratin proteins and the filaments they form in surface epithelia has long been appreciated. This said, the remarkable diversity of keratin proteins and the notion that they are encoded by one of the largest gene families in the human genome has come to the fore relatively recently, coinciding with the sequencing of whole genomes. This complexity has generated some practical challenges, notably in terms of nomenclature and tractability. More importantly, however, studies of keratin have seeded the discovery of the genetic basis for a large number of genodermatoses and continue to provide a unique perspective on and insight into epithelial cells and tissues, whether normal or diseased...
May 2017: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/28369476/pnpla1-defects-in-patients-with-autosomal-recessive-congenital-ichthyosis-and-ko-mice-sustain-pnpla1-irreplaceable-function-in-epidermal-omega-o-acylceramide-synthesis-and-skin-permeability-barrier
#11
Mélanie Pichery, Anne Huchenq, Roger Sandhoff, Maella Severino-Freire, Sarra Zaafouri, Lukáš Opálka, Thierry Levade, Vanessa Soldan, Justine Bertrand-Michel, Emeline Lhuillier, Guy Serre, Annabel Maruani, Juliette Mazereeuw-Hautier, Nathalie Jonca
Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of monogenic genodermatoses that encompasses non-syndromic disorders of keratinization. The pathophysiology of ARCI has been linked to a disturbance in epidermal lipid metabolism that impaired the stratum corneum function, leading to permeability barrier defects. Functional characterization of some genes involved in ARCI contributed to the identification of molecular actors involved in epidermal lipid synthesis, transport or processing...
May 15, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28340684/do-the-side-effects-of-braf-inhibitors-mimic-rasopathies
#12
REVIEW
Alicia Sfecci, Alain Dupuy, Monica Dinulescu, Catherine Droitcourt, Henri Adamski, Smail Hadj-Rabia, Sylvie Odent, Marie-Dominique Galibert, Lise Boussemart
Recent advances in targeted anticancer therapies have substantially improved the prognosis of several cancers. Such targeted therapies are not, however, free of side effects, and these side effects are clearly distinct from those induced by classical cytotoxic chemotherapies. This is likely so because targeted therapies are designed to interfere with specific oncogenic signaling pathways rather than to inhibit cell proliferation in general. In fact, interference with specific signaling pathways may lead to effects that mimic those associated with genetic disorders due to alterations in the corresponding signaling pathways...
April 2017: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/28168442/revertant-mosaicism-in-genodermatoses
#13
REVIEW
Young H Lim, Jonathan M Fisher, Keith A Choate
Inherited monogenic skin disorders include blistering disorders, inflammatory disorders, and disorders of differentiation or development. In most cases, the skin is broadly involved throughout the affected individual's lifetime, but rarely, appearance of normal skin clones has been described. In these cases of revertant mosaicism, cells undergo spontaneous correction to ameliorate the effects of genetic mutation. While targeted reversion of genetic mutation would have tremendous therapeutic value, the mechanisms of reversion in the skin are poorly understood...
June 2017: Cellular and Molecular Life Sciences: CMLS
https://www.readbyqxmd.com/read/28147884/atlas-of-genodermatoses-second-edition-a-colorful-review-of-genodermatoses
#14
Erin T Landis
No abstract text is available yet for this article.
February 2, 2017: Journal of Dermatological Treatment
https://www.readbyqxmd.com/read/28087116/application-of-whole-exome-sequencing-in-elucidating-the-phenotype-and-genotype-spectrum-of-junctional-epidermolysis-bullosa-a-preliminary-experience-of-a-tertiary-care-centre-in-india
#15
Vamsi K Yenamandra, Shamsudheen K Vellarikkal, Manoj Kumar, Madhumita R Chowdhury, Rijith Jayarajan, Ankit Verma, Vinod Scaria, Sridhar Sivasubbu, Subrata B Ray, Amit K Dinda, Madhulika Kabra, Punit Kaur, Vinod K Sharma, Gomathy Sethuraman
BACKGROUND: Junctional epidermolysis bullosa (JEB) is a diverse group of genodermatoses associated with extreme skin fragility. Despite several well-characterized genetic studies, molecular diagnosis of this heterogeneous group is still challenging. Recent advances in the field of genomics have seen the successful implementation of whole exome sequencing (WES) as a fast and efficient diagnostic strategy in several genodermatoses. OBJECTIVE: In view of the scarcity and need of molecular studies for JEB in India, we sought to explore the potential of WES in understanding the mutational spectrum of this rare, in certain subtypes lethal, sub-group of EB...
April 2017: Journal of Dermatological Science
https://www.readbyqxmd.com/read/27982466/expansion-of-the-genotypic-and-phenotypic-spectrum-of-xeroderma-pigmentosum-in-chinese-population
#16
Jia Zhang, Ruhong Cheng, Xia Yu, Zhonghui Sun, Ming Li, Zhirong Yao
BACKGROUND: Xeroderma pigmentosum (XP) is a rare genodermatosis characterized by exaggerated sunburn reactions, freckle-like pigmentation, and a high possibility of developing cutaneous tumors. XP comprised seven complementation groups (from XP-A to XP-G) and a variant form XP-V. METHODS: This study was based on five unrelated Chinese families with six patients clinically suspected to be XP. Mutation screening was performed by direct sequencing of the entire coding region of eight XP genes...
January 2017: Photodermatology, Photoimmunology & Photomedicine
https://www.readbyqxmd.com/read/27981618/access-to-genetic-diagnostics-for-genodermatoses-who-should-get-tested-why-who-pays
#17
EDITORIAL
Eoin R Storan, Alan D Irvine
No abstract text is available yet for this article.
January 2017: Pediatric Dermatology
https://www.readbyqxmd.com/read/27874213/questioning-the-clinical-utility-of-exome-sequencing-in-developing-countries
#18
Kenneth Fong, Celeste V Bailey, Peggy Tuttle, Bari Cunningham, John A McGrath, Raymond J Cho
The availability of whole-exome sequencing has revolutionized the study of genetic disease in recent years, particularly in dermatology, where clinical phenotypes are readily recognized. As this technology becomes increasingly affordable and accessible, questions are emerging regarding the clinical and ethical responsibilities of physicians who determine variants underlying disease, especially with regard to children, for whom treatment may be warranted and clinical course improved based on a known genotype...
January 2017: Pediatric Dermatology
https://www.readbyqxmd.com/read/27822733/-cutaneous-manifestations-in-renal-diseases
#19
REVIEW
M Schmid-Simbeck, A Udvardi, B Volc-Platzer
In addition to general skin changes like pallor or dryness and the frequent, often excruciating nephrogenic pruritus, specific diseases in patients with renal failure may occur. Acquired perforating dermatoses are usually also highly pruritic. Calciphylaxis is a severe disease with poor prognosis. Nonhealing wounds with superinfection and progression to sepsis are characteristic. Bullous lesions can be caused by disturbances in porphyrin metabolism. Nephrogenic systemic fibrosis is a disease which was first described in 2000...
December 2016: Der Hautarzt; Zeitschrift Für Dermatologie, Venerologie, und Verwandte Gebiete
https://www.readbyqxmd.com/read/27767270/a-multistep-approach-to-the-diagnosis-of-rare-genodermatoses
#20
Iliana Tantcheva-Poór, Vinzenz Oji, Cristina Has
Recent advances in genetic technology have found their way into clinical dermatology. Approximately one third of all hereditary disorders show characteristic cutaneous findings. Moreover, human skin easily provides samples for studying the mechanisms of genetic mosaicism, as well as the underlying functional defects due to mutated proteins. Diagnosing hereditary skin disorders remains, however, a challenging task due to the rarity of genodermatoses and their diversity, overlapping or heterogeneous phenotypes, huge amount of new information, and complicated nomenclature and classifications...
October 2016: Journal der Deutschen Dermatologischen Gesellschaft, Journal of the German Society of Dermatology: JDDG
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