Results 41 to 50 of about 19,181 (266)

Childhood hypopigmented mycosis fungoides: a commonly delayed diagnosis [PDF]

, 2014
Primary cutaneous lymphomas (PCLs) are exceedingly rare in children and adolescents, with mycosis fungoides (MF) being the most frequent PCL diagnosed in childhood. There are numerous unusual clinical variants of MF, including the hypopigmented type form
Gameiro, A, Gouveia, M, Moreno, A, Tellechea, O   +3 more
core   +1 more source

Skin Pigmentation Types, Causes and Treatment—A Review

Molecules, 2023
Human skin pigmentation and melanin synthesis are incredibly variable, and are impacted by genetics, UV exposure, and some drugs. Patients’ physical appearance, psychological health, and social functioning are all impacted by a sizable number of skin ...
Amin Mahmood Thawabteh, Alaa Jibreen, Donia Karaman, Alà Thawabteh, Rafik Karaman   +4 more
doaj   +1 more source

Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy [PDF]

, 2014
Exome sequencing revealed a homozygous missense mutation (c.317C>G [p.Arg106Pro]) in POC1B, encoding POC1 centriolar protein B, in three siblings with autosomal-recessive cone dystrophy or cone-rod dystrophy and compound-heterozygous POC1B mutations (c ...
Arts, Heleen H, Coppieters, Frauke, Cremers, Frans PM, De Baere, Elfride, de Vrieze, Erik, den Hollander, Anneke I, Hetterschijt, Lisette, Hoyng, Carel B, Kremer, Hannie, Lambertus, Stanley, Lamers, Ideke JC, Letteboer, Stef JF, Peters, Theo A, POC1B Study Group, the, Roepman, Ronald, Roosing, Susanne, van den Born, L Ingeborgh, van Wijk, Erwin   +17 more
core   +2 more sources

Genome-wide screening of mouse knockouts reveals novel genes required for normal integumentary and oculocutaneous structure and function. [PDF]

, 2019
Oculocutaneous syndromes are often due to mutations in single genes. In some cases, mouse models for these diseases exist in spontaneously occurring mutations, or in mice resulting from forward mutatagenesis screens.
Adissu, Hibret, Berberovic, Zorana, Clary, Dave, Eskandarian, Mohammad, Flenniken, Ann M, International Mouse Phenotyping Consortium, Lloyd, KC Kent, McKerlie, Colin, Moore, Bret A, Moshiri, Ala, Moshiri, Ata S, Murphy, Christopher J, Newbigging, Susan, Nutter, Lauryl MJ, Owen, Celeste, Thomasy, Sara M   +15 more
core  

Molecular and clinical characterization of albinism in a large cohort of Italian patients. [PDF]

, 2011
PURPOSE: The purpose of this study was to identify the molecular basis of albinism in a large cohort of Italian patients showing typical ocular landmarks of the disease and to provide a full characterization of the clinical ophthalmic manifestations.
Ciccodicola, A, de Berardinis, T, Di Iorio, V, FAZZI, Elisa Maria, Fecarotta, S, Fossarello, M, Galantuomo, Ms, Gargiulo, A, Iovine, A, Macaluso, C, Magli, A, Montefusco, S, Neri, A, Rossi, S, Signorini, S, Simonelli, F, Surace, Em, Testa, F   +17 more
core   +2 more sources

The association between neural crest‐derived glia and melanocyte lineages throughout development and disease

Developmental Dynamics, EarlyView.
Abstract Neural crest cells are a transient cell population that emerges from the dorsal neural tube during neurulation and migrates extensively throughout the embryo. Among their diverse derivatives, glial cells (such as Schwann and satellite ganglionic cells) and melanocytes represent two major lineages. In vitro studies suggested they share a common
Chaya Kalcheim
wiley   +1 more source

The role of Rho GTPases in facial morphogenesis

Developmental Dynamics, EarlyView.
The role of small GTPases, RHOA, RAC1, and CDC42 and pathway mediators is reviewed in the context of embryonic facial development. Lip fusion requires cytoskeletal remodeling during morphogenesis of the facial processes and during lip fusion. Fnm, frontonasal mass; lnp, lateral nasal process; mnp, medial nasal process; mxp, maxillary process; np, nasal
Isra Ibrahim, Joy M. Richman
wiley   +1 more source

Anomalous colour in Neotropical mammals: a review with new records for Didelphis sp. (Didelphidae, Didelphimorphia) and Arctocephalus australis (Otariidae, Carnivora)

Brazilian Journal of Biology
Anomalous colourations occur in many tropical vertebrates. However, they are considered rare in wild populations, with very few records for the majority of animal taxa. We report two new cases of anomalous colouration in mammals.
MSL. Abreu, R. Machado, F. Barbieri, NS. Freitas, LR. Oliveira   +4 more
doaj   +1 more source

Bioactive Phytochemical Compounds in Medicago sativa L. (Alfalfa): A Systematic Review of Biological Properties and Therapeutic Relevance in Nutraceutical and Functional Food Implications

Food Frontiers, EarlyView.
ABSTRACT Medicago sativa L. (alfalfa) harbors a remarkably diverse reservoir of bioactive secondary metabolites. Flavonoids, isoflavones, and triterpenoid saponins dominate its bioactivity landscape, driving potent antioxidant, anti‐inflammatory, antimicrobial, estrogenic, hypolipidemic, and cytotoxic actions through redox modulation, membrane ...
Parham Joolaei Ahranjani, Hamid Rashidi Nodeh, Zahra Esfandiari, Giovanna Ferrentino   +3 more
wiley   +1 more source

Fascin 1 is transiently expressed in mouse melanoblasts during development and promotes migration and proliferation [PDF]

, 2013
Fascins, a family of actin-bundling proteins, are expressed in a spatially and temporally restricted manner during development and often in cancer.
Ackermann, Adams, Adams, Aratyn, Baxter, Borghese, Bravo-Cordero, Breitsprecher, Cant, Colombo, De Arcangelis, Delmas, Gillespie, Harris, Hashimoto, Hashimoto, Hashimoto, Hayashi, Hornyak, Jawhari, Jayo, Jayo, Jordan, Kim, Larue, Li, Li, Li, Lindsay, Loughna, Luciani, Machesky, Mackenzie, Migeotte, Mort, Nagy, Novak, Pelosi, Pla, Schoumacher, Sherr, Silver, Takemoto, Uyama, Vignjevic, Wang, Woolner, Xie, Xie, Yamakita, Yamakita, Yamashiro, Zanet   +52 more
core   +3 more sources