Search

everythingexperts & clinicslearnfaqsresearchcommunity

for

Search:↓

New ABCA12 gene mutations were linked to a skin condition with scaling and hair loss, and a treatment helped with hair loss in a related case.

This report identified three novel genetic mutations associated with congenital ichthyosis in Italian newborns and emphasized the importance of next-generation sequencing for personalized patient management.

In this study, researchers found that knockdown of ABCA5 in primary human hair follicle keratinocytes disrupted cholesterol homeostasis and transportation, suggesting its potential role in hair growth disorders by affecting intracellular cholesterol compartmentalization and LXR-mediated transcriptional activity.

This study investigated the role of the ABCA4 gene in human keratinocytes and hair follicle stem cells and found that silencing the ABCA4 gene increases the harmful effects of all-trans-retinal on hair follicle stem cells.

This review describes the clinical presentation, diagnosis, and management of adrenomyeloneuropathy, including rehabilitative therapies and spasticity management, and reports no new clinical results.

This study suggests that human hair follicles may serve as a model for molecular analysis of ABCA4 gene splice-site variants, facilitating research into the pathogenicity of ABCA4 retinopathies.

This study identified 11 previously unreported ABCA12 variants associated with varying severities of autosomal recessive congenital ichthyoses and expanded the phenotype spectrum of ichthyosis linked to these variants.

This study found various ABC transporters are transcribed in human hair follicles, suggesting their possible role in HF biology and potential for new therapeutic interventions.

In this study, human hair follicles showed varying expression of cholesterol transport proteins during the hair cycle, suggesting a potential role of cholesterol in hair growth and cycling.

This study found that hair follicles play a significant role in regulating skin barrier function, with disruptions in the upper hair follicle affecting the epidermis, influencing processes like desquamation and sebum release, and leading to cell movement into the epidermis.

In this mouse study, researchers found that the Jieduquyuziyin prescription may lessen lupus-like symptoms and atherosclerosis by inhibiting TLR9/MyD88 signaling and promoting cholesterol efflux.

Hair follicles are crucial for maintaining skin barrier function.

This study found that Nubian ibex have developed genetic adaptations in response to their desert environment, including enhanced skin barrier, DNA repair, viral response, and metabolism of toxic compounds.

This study found that matrix progenitor cell differentiation in hair growth has distinct early and late phases, and generated a mouse model to explore the hair follicle's role in harlequin ichthyosis.

In this study, researchers observed that TLR3 and scavenger receptors play key roles in skin barrier repair following UVB damage, contributing to our understanding of cellular responses to skin injury.

This study identified novel genetic associations with skin phenotypes such as age-spots, freckles, and hair characteristics in Japanese women, providing insights into the genetic basis of these traits.

This study identified a new clinical variant of adult adrenomyeloneuropathy characterized by hypoplasia and agenesis of the corpus callosum, associated with a novel ABCD1 gene mutation.

Men with Addison disease should be screened for X-linked adrenoleukodystrophy if they have hair loss.

This case report describes a 57-year-old man's late diagnosis of X-linked adrenoleukodystrophy, highlighting the need to consider this condition in patients with non-autoimmune primary adrenal insufficiency and neurological issues.

This study explored the molecular biology of skin adaptations in pangolins, revealing that certain genes for lipid synthesis have inactive patterns, while others related to skin function remain intact, suggesting complex evolutionary changes in their skin physiology.

This study investigated pangolin skin genetics, finding that while sweat gland-related genes are not inactivated, several genes related to sebaceous gland function are, which highlights complex evolutionary adaptations in mammalian skin.

Chemotherapy patients don't all lose their hair due to factors like hair growth rates, age, genetics, and the type of drugs used.

This review discusses the common occurrence of docetaxel-induced hair loss in cancer patients, including permanent cases, and highlights current and experimental strategies like scalp cooling, minoxidil, and new clinical trials for managing and preventing this side effect.

This case report identified a 6-month-old girl with congenital generalized hypertrichosis and gingival hyperplasia, where a de novo CNV on chromosome 17q24.2-24.3 was associated with reduced expression of ABCA5 and SOX9.

Dermal exosomes with miR-218-5p boost hair growth by controlling β-catenin signaling.

This article reviews the mechanisms controlling long bone growth and suggests that new research approaches are needed to explore the role of extrinsic signals and tissue interactions.

This study indicates that ABCG2 expression identifies interfollicular keratinocyte progenitor cells in human epidermis and suggests it could help enrich these stem cells for research and treatment.

This study identified ABCB6 as the first gene linked to dyschromatosis universalis hereditaria (DUH) in a large Chinese family, suggesting it plays a role in skin pigmentation.

This study identified a new PNPLA1 mutation in a Spanish family with autosomal recessive congenital ichthyosis.

This study reports that Abelson Interactor 1 (ABI1) regulates androgen receptor transcription in prostate cancer, identifying it as a potential target for new therapies addressing treatment resistance.