Results 101 to 110 of about 517,181 (258)

Gaucher disease, state of the art and perspectives

Journal of Internal Medicine, EarlyView.
Abstract Knowledge about Gaucher disease (GD), considered a model for rare diseases, has considerably increased since its discovery. The pathophysiology of this lysosomal disorder is better known, and specific therapies that can control many aspects of the disease have been developed, particularly for the most common form, Type 1 GD.
Fabrice Camou, Marc G. Berger
wiley   +1 more source

Harlequin baby (A case report)

, 2007
In this article, a full-term male neonate with Harlequin fetus has been reported. It was born from a 20 year old mother by the Caesarean operation. In the clinical examination, broad, thick and hard hyperkeratotic disks were observed all troughs the body
Golalipour, M.J., Mobasheri, E., Mohamadian, S.   +2 more
core   +1 more source

Genetic testing and new variants in diagnosis of congenital ichthyoses

Molecular Genetics & Genomic Medicine
Background The aim of this study was to evaluate how diagnostic practice in congenital ichthyoses has evolved during the years 2000–2020 and what kind of gene variants of congenital ichthyosis have been found.
Milja Salo, Teija Kimpimäki, Heini Huhtala, Tanja Saarela   +3 more
doaj   +1 more source

Multiple sulfatase deficiency with neonatal manifestation. [PDF]

, 2014
Multiple Sulfatase Deficiency (MSD; OMIM 272200) is a rare autosomal recessive inborn error of metabolism caused by mutations in the sulfatase modifying factor 1 gene, encoding the formylglycine-generating enzyme (FGE), and resulting in tissue ...
Ballabio, A., Bernasconi, S., Braibanti, S., Frattini, D., Gabrielli, O., Galeazzi, T., Garavelli, L., Gargano, G., Gelmini, C., Iori, A., Iughetti, L., Ivanovski, I., Melli, N., Padella, L., Pedori, S., Pepe, S., Rosato, S., Santoro, L., Superti-Furga, A., Wischmeijer, A., Zampini, L.   +20 more
core   +1 more source

From Dysplasia to Carcinoma: Expression Patterns of Dermokine, Matriptase, and Tryptase in OPMD

Oral Diseases, EarlyView.
ABSTRACT Background The malignant transformation of oral potentially malignant disorders (OPMDs) lacks reliable molecular markers. Dermokine and matriptase are involved in epithelial differentiation and inflammation, while tryptase is associated with the tumor microenvironment, which may contribute to carcinogenesis.
Lara Maria Alencar Ramos Innocentini, Mateus Gonçalves Miranda, Carol Kobori da Fonseca, Pedro Franco Ferreira, Leandro Dorigan de Macedo, Graziela Cavalcanti, Luiz Carlos Conti de Freitas, Ana Carolina Fragoso Motta, Alan Grupioni Lourenço, Katiuchia Uzzun Sales   +9 more
wiley   +1 more source

Erythrokeratodermia Variabilis due to a Compound Heterozygous Variants in the NIPAL4 Gene

Pediatric Dermatology, EarlyView.
ABSTRACT We report on a novel pathogenic genetic variant in compound heterozygosis of the NIPAL4 gene c.396C>Gp.(Ile132Met); additionally, we comment on key clinical findings that contribute to the expansion of the EKVP phenotype in childhood.
Luis Fernando Sánchez‐Espino, Marta Ivars, Asunción Vicente‐López, Carolina Prat‐Torres, Judith Armstrong‐Morón, Eulalia Baselga   +5 more
wiley   +1 more source

Neonatal Epidermolytic Ichthyosis Caused by a KRT10 Mutation (c.467G>A, p.Arg156His): A Case Report

Clinical Case Reports, Volume 13, Issue 8, August 2025.
ABSTRACT We present a neonatal case of skin blisters and erythema. While epidermolysis bullosa was initially suspected, immunofluorescence antigen mapping and genetic testing confirmed epidermolytic ichthyosis, with a heterozygous pathogenic variant in the KRT10 gene (c.467G>A, p.Arg156His).
Elke Smits, Gunnar Naulaers, Maria C. Bolling, Eric Legius, Caroline Colmant   +4 more
wiley   +1 more source

HAI-2 stabilizes, inhibits, and regulates SEA-cleavage-dependent secretory transport of matriptase [PDF]

, 2017
It has recently been shown that HAI-2 is able to suppress carcinogenesis induced by overexpression of matriptase, as well as cause regression of individual established tumors in a mouse model system. However, the role of HAI-2 is poorly understood.
Barre, Basel-Vanagaite, Benaud, Chang, Cho, Creighton, Delaria, Desilets, Ellgaard, Friedrich, Friis, Friis, Friis, Godiksen, Godiksen, Heinz-Erian, Hong, Hoshiko, Inouye, Inouye, Kataoka, Kawaguchi, Kim, Kim, Larsen, Lee, Levitin, Lin, Lin, Lin, List, List, List, List, List, List, List, Macao, Netzel-Arnett, Oberst, Oberst, Pendlebury, Qin, Ranasinghe, Sales, Sales, Shimomura, Szabo, Szabo, Szabo, Szabo, Szabo, Takeuchi, Tanaka, Tsai, Wlodawer, Zhao   +56 more
core   +1 more source

Lamellar Icthyosis – A case Report [PDF]

Journal of Clinical and Diagnostic Research, 2014
Autosomal recessive congenital ichthyosis is a heterogenous group of disorders that are present at birth with generalized involvement of skin and lack of other organ systems.
Pranitha V, Thimma Reddy B.V, Daneswari V, Sudhanwa N Deshmukh   +3 more
doaj   +1 more source

Genetic Testing in Mosaicism

JEADV Clinical Practice, Volume 4, Issue 3, Page 664-668, August 2025.
ABSTRACT Mosaicism due to postzygotic mutations is more common than considered before the era of massive parallel sequencing. In the clinical dermatologic practice, it is important to recognize skin lesions and syndromes caused by genetic mosaicism, to initiate genetic testing and counsel the patient and families regarding prognosis and risk of ...
Cristina Has
wiley   +1 more source