Search

everythingexperts & clinicslearnfaqsresearchcommunity

for

Search:↓

In this study, it was observed that NIPAL4 mutations linked to autosomal recessive congenital ichthyosis lead to abnormal skin barrier function due to cytotoxic effects disrupting lipid structure and organization, which topical treatments only partially ameliorated.

This study reported the first case of a NIPAL4 c.527C>A mutation in Romanian patients with autosomal recessive congenital ichthyosis, finding that NIPAL4 mutations are more common than TGM1 mutations in this population.

This study reports the first identification of the deleterious NIPAL 4 variant, associated with autosomal recessive congenital ichthyosis, in an American Bully and describes its clinical management and follow-up.

This study identified eight mutations in five genes associated with different aspects of ichthyosis among Tunisian patients, enhancing understanding of its genetic and clinical diversity.

In this study, exome sequencing revealed that two brothers with ichthyosis, born to consanguineous parents, had NIPAL4 autosomal recessive congenital ichthyosis, while the older brother's blindness resulted from separate mutations in the peroxidasin gene, which were also found in an unaffected sister.

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

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 case report describes a 12-year-old boy with severe skin scaling due to novel compound heterozygous null truncation mutations in the TGM1 gene, resulting in loss of transglutaminase 1 activity.

This study reports an association between the ESR2 gene variant rs10137185 and female-pattern hair loss in German patients.

This study in a Pakistani family identified a novel ST14 gene variant as the likely genetic cause of autosomal recessive ichthyosis with hypotrichosis syndrome.

This review outlines a diagnostic framework for clinicians to distinguish different types of inherited ichthyoses and suggests further testing and treatment strategies, but reports no new clinical results.

This case report describes how a long-term combination of oral fatty acids and topical therapy appeared beneficial for managing autosomal recessive congenital ichthyosis in a goldendoodle with a PNPLA1 mutation.

This study reveals that β-catenin and retinoic acid are key regulators in the gene networks controlling the fate of skin appendages, such as scales and feathers.

This study revealed key cellular dynamics and interactions during early embryonic mouse skin development, highlighting complex transitions from precursor states to diverse multilayered structures.

This case report describes a 10-year-old girl with lamellar ichthyosis who showed marked improvement in scaling and skin stiffness after six weeks of treatment with emollient and supportive therapy.

This case report describes a presumptive case of ichthyosis fetalis in a cross-bred lamb and highlights the need for this rare condition in sheep to be considered by veterinarians in the differential diagnosis of dermatopathies.

This study used single-cell RNA sequencing to create a detailed atlas of human scalp hair follicles and found that early-stage hair graying involves matrix hair progenitor depletion linked to P53 pathway activation.

This study identified a novel recessive mutation in mice causing lethal congenital lamellar ichthyosis, with skin and hair follicle alterations similar to human congenital ichthyoses, linked to a specific genetic defect affecting Fatp4.

This review highlights the ongoing need for novel treatments for autosomal recessive congenital ichthyoses, suggesting that drug repositioning, utilizing existing medications or biologics, could provide more affordable and effective options for managing this lifelong skin condition.

This study reported that high cholesterol levels were linked to increased prostate cancer risk, while selenium supplementation affected gene expression, suggesting nutritional and clinical factors might influence prostate cancer risk and biology.

This study observed that eco-friendly PALF forms a protective physical barrier on the skin, helping limit the impact of environmental pollutants and offering additional benefits for skin and hair in various cosmetic formulations.

This study found that PX-12 inhibited the NLRP3 inflammasome and reduced psoriasis-like symptoms in a mouse model, suggesting its potential as a treatment for psoriasis.

This case study suggests that palash basti, a form of Ayurvedic treatment, may effectively manage polyendocrine metabolic ovarian syndrome by improving menstrual regularity and hormonal balance, though further studies are needed.

In this study, deletion of ROBO4 in mice ameliorated hair loss caused by elevated PAF levels, suggesting potential interplay with VLDLR-related pathways.

In this study, IPL treatment for six months significantly reduced hair growth in females with faun tail nevus linked to spinal abnormalities.

This study found that the oral IRAK4-inhibitors BAY 1834845 and BAY 1830839 reduced skin inflammation and systemic inflammatory responses in healthy volunteers, showing similar pharmacodynamic effects to prednisolone when challenged with topical imiquimod and intravenous LPS.

This study found that intense pulsed light treatment achieved a mean of 85% hair reduction in two patients with faun tail, although local anesthesia may be needed due to severe pain associated with neurological abnormalities.

This study identifies two previously unreported pathogenic RIPK4 gene variants, suggesting a functional link with cell adhesion molecules in ectodermal dysplasias.

This study observed that N-palmitoylethanolamine (PEA) may relieve pain by enhancing de novo neurosteroid synthesis, evidenced by increased allopregnanolone levels and protein expression in pain models, dependent on PPAR-α.