Results 81 to 90 of about 3,399 (216)
Mouse Models of Human Claudin-Associated Disorders: Benefits and Limitations [PDF]
, 2019 In higher organisms, epithelia separate compartments in order to guarantee their proper function. Such structures are able to seal but also to allow substances to pass.
Fernández-Rodríguez, Cármen +3 more
core +1 more source
Biology of the Cell, Volume 117, Issue 10, October 2025.The morphodynamical plasticity of the endolysosomal system supports the formation and function of specialized intracellular compartments, as exemplified by the pigment organelles in skin cells. In epidermal melanocytes and keratinocytes, membrane trafficking and remodeling coordinate tissue pigmentation and protect the genome from photodamage ...
Laura Salavessa +4 more
wiley +1 more source
Laser therapy: palliative care for the Harlequin syndrome? [PDF]
Einstein (São Paulo)Harlequin syndrome is a rare condition characterized by facial dysautonomia with anhidrosis, hemifacial blush, and other nonfacial manifestations without conventional treatment.
Felipe Otávio Saraiva França +4 more
doaj +2 more sources
Ectodysplasin A (EDA) - EDA receptor signalling and its pharmacological modulation. [PDF]
, 2014 The TNF family ligand ectodysplasin A (EDA) regulates the induction, morphogenesis and/or maintenance of skin-derived structures such as teeth, hair, sweat glands and several other glands.
Kowalczyk-Quintas, C., Schneider, P.
core +1 more source
Clinical Case Reports, Volume 13, Issue 9, September 2025.ABSTRACT Fabry disease (FD) is a rare disease that progressively causes myocardial degeneration. There are only a few low‐voltage areas, but some fractionated potentials are present in the left atrium of FD patients with atrial fibrillation (AF). Attempting non‐pulmonary vein (non‐PV) substrate ablation may be worthwhile.
Koumei Onuki +5 more
wiley +1 more source
Indian Journal of Paediatric Dermatology, 2020 Fabry's disease is a rare X-linked dermatosis, resulting from alpha-galactosidase deficiency and presents with both cutaneous (angiokeratoma, acral paresthesia, and hypohidrosis) and extracutaneous manifestations (ocular, cardiac, renal, and neurological)
Ishmeet Kaur +3 more
doaj +1 more source
Fabryjeva bolest - smjernice za dijagnozu i liječenje odraslih bolesnika [Fabry disease - guidelines for diagnosis and management of adult patients] [PDF]
, 2014 Early diagnosis and management of patients with Fabry disease (FD) requires a multidisciplinary approach of several different experts. The aim of this document is to provide health care professionals with guidelines for management of adult patients with ...
Merkler, Marijan +5 more
core
Severe combined immunodeficiency-an update [PDF]
, 2015 Severe combined immunodeficiencies (SCIDs) are a group of inherited disorders responsible for severe dysfunctions of the immune system. These diseases are life-threatening when the diagnosis is made too late; they are the most severe forms of primary ...
CIRILLO, EMILIA +8 more
core +1 more source
Epidermal Nevi and Epidermal Naevus Syndromes
JEADV Clinical Practice, Volume 4, Issue 3, Page 669-680, August 2025.ABSTRACT Epidermal nevi (EN) arise from postzygotic variants in ectoderm‐derived cell lines, such as keratinocytes and cells forming adnexa. EN may be present alone without any associated abnormality or be part of a syndrome. In this review, we will discuss about the clinical and genetics of the main types of EN and related syndromes.
Gianluca Tadini +2 more
wiley +1 more source
Prosthetic rehabilitation for a patient with hypohidrotic ectodermal dysplasia: a clinical case
Brazilian Journal of Oral Sciences, 2015 Hypohidrotic ectodermal dysplasia (HED) is a hereditary syndrome, characterized by a classic triad of hypotrichosis, hypodontia and hypohidrosis. The case of an 8-year-old girl with HED presenting oligodontia and marked resorption of maxillary and ...
Guna Shekhar +3 more
doaj +1 more source