Ichthyosis vulgaris: an updated review

H Jaffar, Z Shakir, G Kumar, IF Ali - Skin Health and Disease, 2023 - Wiley Online Library
Ichthyosis vulgaris is an inherited, non‐syndromic form of ichthyosis that presents with skin
problems. Making up more than 95% cases of ichthyosis, ichthyosis vulgaris is caused by …

Report of a novel ALOX12B mutation in self-improving collodion ichthyosis with an overview of the genetic background of the collodion baby phenotype

P Anker, N Kiss, I Kocsis, É Czemmel, K Becker… - Life, 2021 - mdpi.com
Collodion baby is a congenital, transient phenotype encountered in approximately 70–90%
of autosomal recessive congenital ichthyosis and is an important entity of neonatal …

Copy number variation characterization and possible candidate genes in miscarriage and stillbirth by next‐generation sequencing analysis

X Zhang, Q Huang, Z Yu, H Wu - The Journal of Gene Medicine, 2021 - Wiley Online Library
Background The present study aimed to explore the etiological relationship between
miscarriage and stillbirth and copy number variations (CNVs), as well as provide useful …

[HTML][HTML] Врожденный ихтиоз: клинико-генетические характеристики заболевания

НН Мурашкин, КО Аветисян… - Вопросы современной …, 2022 - cyberleninka.ru
Врожденный ихтиоз-группа (почти 100 клинических вариантов) редких генетических
кожных заболеваний, возникающих в результате патогенных изменений в более чем …

Biallelic mutations in FLG, TGM1, and STS genes segregated with different types of ichthyoses in eight families of Pakistani origin

N Khan, K Shah, F Fozia, SA Khan… - International Journal …, 2023 - Wiley Online Library
Background Congenital ichthyosis is a diverse group of keratinization disorders associated
with generalized scaling of skin of varying severity. The non‐syndromic forms of congenital …

[HTML][HTML] Congenital Ichthyosis: Clinical and Genetic Characteristics of the Disease

NN Murashkin, KO Avetisyan, RA Ivanov… - Current …, 2022 - vsp.spr-journal.ru
Congenital ichthyosis is a group (almost 100 clinical variants) of rare genetic skin diseases
caused by pathogenic changes in more than 50 genes. Clinical features of ichthyosis …

Whole exome sequencing identifies novel pathogenic variants in TGM1 and ALOX12B in patients with hereditary ichthyosis

M Chegini, M Eslami, M Motavaf… - Archives of …, 2023 - Springer
Background Hereditary ichthyosis is a clinically and genetically heterogeneous disorder
associated with more than 50 genes with TGM1, ALOX12B, and ALOXE3 being the most …

[PDF][PDF] 内皮蛋白, 兜甲蛋白及角蛋白2e 在三种鱼鳞病表皮中的表达

李雪梅, 李薇, 李常兴, 梁景耀, 张锡宝 - 皮肤性病诊疗学杂志 - pfxbzlx.gdvdc.com
目的比较角蛋白鱼鳞病(KPI) 与寻常型鱼鳞病(IV) 和板层状鱼鳞病(LI) 内皮蛋白(involu crin),
兜甲蛋白(loricrin) 及角蛋白2e (K2e) 的表达是否存在差异, 与角化过度程度不一是否存在一定 …

[PDF][PDF] Molecular genetics and pathogenesis of ichthyosis

S Panda - 2023 - reseaprojournals.com
* Correspondence: Suman Panda, Department of Biotechnology, MITS School of
Biotechnology, Utkal University, Odisha, India, e-mail: sumanpanda1397@ gmail. com e …

[PDF][PDF] IN VIVO PHENOTYPING OF SULT1A ENZYMES IN MAN IMPLICATIONS FOR PRECISION MEDICINE

NCDEF MARTO - 2022 - run.unl.pt
The cytosolic sulfotransferase enzymes (SULT) are products of a diverse gene superfamily
that catalyse sulfoconjugation (or sulfonation)-a relatively understudied topic in the area of …