research Long-read RNA sequencing reveals extensive transcript isoform changes in a patient with IFAP syndrome with a recurrent intronic MBTPS2 variant
Long-read RNA sequencing can identify complex gene changes in IFAP syndrome.
Search
for
Sort by
Research
900-930 / 1000+ results
research Size Polymorphisms in the Human Ultrahigh Sulfur Hair Keratin-Associated Protein 4, KAP4, Gene Family
The study found that variations in hair protein genes are likely due to evolutionary deletions or duplications.
research ADAM17 variant causes hair loss via ubiquitin ligase TRIM47 mediated degradation
A variant in the ADAM17 gene causes hair loss by increasing protein degradation through TRIM47.
research The Investigation of LPA 4 Functions in Zebrafish
LPA 4 helps control blood and lymph vessel development in zebrafish.
research In Silico Characterization and Analysis of Clinically Significant Variants of Lipase-H (LIPH Gene) Protein Associated with Hypotrichosis
Three specific mutations in the LIPH gene can cause hair loss by damaging the protein's structure and function.
research Thermal imaging and dermoscopy for detecting inflammation in frontal fibrosing alopecia
Infrared thermography, especially with dermoscopy, improves accuracy in diagnosing active hair loss due to inflammation.
research Desmoglein 4 is regulated by transcription factors implicated in hair shaft differentiation
Desmoglein 4 is controlled by specific proteins that affect hair growth.
research Case report: Acrodermatitis enteropathica result from a novel SLC39A4 gene mutation
A girl with skin rashes and low zinc levels improved with zinc supplements and had new gene mutations linked to her condition.
research Characterisation, genomic organisation, expression and function of the mEphA1 receptor Tyrosine Kinase
mEphA1 receptor tyrosine kinase is important for skin and hair development and may play a role in certain diseases.
research Impaired Lef1 activation accelerates iPSC-derived keratinocytes differentiation in Hutchinson-Gilford Progeria Syndrome
Impaired LEF1 activation speeds up skin cell development in Hutchinson-Gilford Progeria Syndrome.
research Hypoxia inducible factor-1a promotes trichogenic gene expression in human dermal papilla cells
A protein called HIF-1a helps control hair growth genes and could be targeted to treat hair loss.
research Identification of factors contributing to phenotypic divergence via quantitative image analyses of autosomal recessive woolly hair/hypotrichosis with homozygous c.736T>ALIPH mutation
Different hair fiber development might explain why hair loss severity varies in patients with a specific genetic mutation, and treatments that thicken hair could help.
research N-terminal functional domain of Gasdermin A3 regulates mitochondrial homeostasis via mitochondrial targeting
Mutations in Gasdermin A3 cause skin inflammation and hair loss by disrupting mitochondria.
research Effect of Flightless I Expression on Epidermal Stem Cell Niche During Wound Repair
Reducing Flightless I protein improves wound healing by activating skin stem cells.
research Assessment of Vascular Circulation in Alopecia Areata Using the FMSF Technique
Women with alopecia areata have poor blood flow, possibly due to nerve inflammation.
research A mutation in MAP2 is associated with prenatal hair follicle density
A mutation in the MAP2 gene causes reduced hair follicle density, leading to hairlessness.
research Frontal Fibrosing Alopecia in Men: Presentations in 12 Cases and a Review of the Literature
FFA in men, often mistaken for other hair loss types, may be more common than thought and needs larger studies for confirmation.
research Evaluation of Serum Level of Vitamin D in Patients with Female Pattern Hair Loss Thesis
Low Vitamin D levels are linked to female hair loss.
research Expression of CD117 and platelet-derived growth factor receptor α in patients with alopecia areata
CD117 and platelet-derived growth factor receptor α may play a role in alopecia areata.
research Fibroblast Growth Factor 21 is Differentially Expressed in Flank Skin and Regulates the Proliferation of Hair Follicle Cells in Yak
research Hair density, hair diameter and the prevalence of female pattern hair loss
FPHL affects hair density and diameter, causing visible hair loss in older women.
research Dunnigan-Type Familial Partial Lipodystrophy: Understanding and Treating the Syndrome
The document concludes that managing Dunnigan-Type Familial Partial Lipodystrophy involves treating associated health issues and using medications like metformin and leptin replacement.
research Variation in Ovine KRTAP13-3 and Its Association with Wool Characteristics in Chinese Tan Sheep
The KRTAP13-3 gene affects wool fibre diameter variability in Chinese Tan sheep.
research Human epidermal transglutaminase. Preparation and properties.
The enzyme from human skin can cross-link proteins and needs calcium to work.
research Editors' Picks
Scientists found gene mutations that affect hair loss, skin stem cells, and skin disorders, and identified drugs that may help treat blood vessel and skin conditions.
research A Novel Missense Mutation Affecting the Human Hairless Thyroid Receptor Interacting Domain 2 Causes Congenital Atrichia
A specific gene mutation causes congenital hair loss.
research The promoter of an androgen dependent gene in the hamster flank organ
Researchers found a gene in hamsters that responds to male hormones and may be indirectly controlled by them.
research 333 Poor perifollicular vascularization is associated with nutrient insufficiency and a quiescent metabolic phenotype in intermediate hair follicles from patients with female pattern hair loss
Poor blood supply in hair follicles is linked to nutrient deficiency in patients with female pattern hair loss, and adding more nutrients could potentially fix this.
research Transcription Regulation and Protein Subcellular Localization of the Truncated Basic Hair Keratin hHb1-ΔN in Human Breast Cancer Cells
A truncated protein linked to breast cancer may change cell adhesion.
research Clinical and Molecular Diagnostic Criteria of Congenital Atrichia with Papular Lesions11This paper originally appeared in issue 117:1662–1665, 2001. Following publication the authors indicated that important corrections at page proof were not taken in. To ensure that the paper is published as intended, the editors have decided to reproduce the contents in full.
Congenital atrichia with papular lesions is often misdiagnosed, and new diagnostic criteria can improve accuracy.