research O02 Ubiquitomics of CYLD-deficient skin tumours reveals dysregulation of hair follicle keratinocyte processes
CYLD deficiency in skin tumors disrupts hair follicle cell processes and protein secretion.
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270-300 / 1000+ results research Moniletrix of the scalp from almost normal aspect to total alopecia: variable intrafamilial expressiveness
Monilethrix causes different levels of hair loss in family members.
research Evaluation of Serum Ferritin, Creatinine and Liver Enzymes in Patients with ß- thalassemia After Administration of Deferasirox
Deferasirox effectively reduces iron overload in ß-thalassemia patients but may cause some manageable side effects.
research Diagnosis dan Tata Laksana Frambusia
Improving medical training is key to eradicating frambusia by 2030.
research A Mosaic Hotspot PLCD1 Variant, Detectable in Blood‐Derived DNA , Associated With Nevus Trichilemmocysticus
A rare genetic variant linked to skin cysts was found in blood DNA, suggesting its role in cyst formation.
research CDH3 gene related hypotrichosis and juvenile macular dystrophy – A case with a novel mutation
A new mutation in the CDH3 gene causes hair loss and vision problems in a young girl.
research Case of autosomal recessive woolly hair/hypotrichosis with compound heterozygous mutations in the LIPH gene at c.742C > A and c.614A > G: The first Japanese case
The first Japanese case of a genetic hair disorder caused by specific mutations in the LIPH gene was identified.
research Molecular–clinical correlations in a family with variable tissue mitochondrial DNA T8993G mutant load
Tissue-specific variation in mutant load complicates genetic counseling and prenatal diagnosis.
research Monilethrix
A boy with monilethrix has brittle hair that breaks easily due to a genetic condition, which might improve by puberty.
research Diffuse hypotrichosis from early childhood
The girl has a genetic hair condition causing thin hair since childhood.
research Hair Follicle Stem Cell SLC3A2 Regulates Epithelial Regenerative Properties
SLC3A2 is crucial for hair follicle stem cell function and hair growth.
research Growth retardation and hair loss in transgenic mice overexpressing human H-ferritin gene
Overexpressing the human H-ferritin gene in mice causes mild growth delay and temporary hair loss.
research FilaggrinHigh melanomas exhibit active FGFR and allergic signatures with impaired GNA14 and Th1 signatures
FilaggrinHigh melanomas have active FGFR signaling and weak GNA14 and Th1 signatures.
research 244 Defective maintenance of hair follicle stem cells through COL17A1 loss orchestrates the hair follicle aging program
Loss of COL17A1 causes hair follicle stem cells to age and leads to hair loss.
research 1493 Dynamic changes in fibroblast subpopulations drives development of radiation-induced skin fibrosis through the fra/c-jun pathway
Radiation treatment causes skin fibrosis by increasing certain fibroblast subpopulations, but using a c-Jun inhibitor or fat grafting can reduce this effect.
research 177 The Striatin-Interacting Phosphatase And Kinases complex is important for skin epidermal differentiation and barrier formation
The STRIPAK complex is crucial for skin cell organization and creating a functional skin barrier.
research Biotin and biotinidase deficiency
Biotin and biotinidase are essential to prevent health issues, and deficiencies require lifelong supplementation.
research Four hypotrichosis families with mutations in the gene LSS presenting with and without neurodevelopmental phenotypes
Mutations in the LSS gene cause hair loss and may affect brain development, with varying severity.
research To Demonstrate the Role of Iron, Vitamin B12, and Vitamin D in Young Females with Chronic Telogen Effluvium Attending the Tertiary Care Centre of Jharkhand
Low iron and vitamin D are common in young females with hair loss.
research Serum ferritin levels and Diffuse hair loss—A correlation
Low serum ferritin levels are significantly linked to diffuse hair loss.
research Trichothiodystrophy without associated neuroectodermal features in two siblings
Two sisters had a rare hair condition without other usual symptoms.
research Two novel MBTPS2 missense mutations impairing S2P proteolytic activity lead to IFAP syndrome with new phenotypic anomalies
New mutations in MBTPS2 reduce its function and cause IFAP syndrome with unusual symptoms.
research Human essential fatty acid deficiency: treatment by topical application of linoleic acid
Applying linoleic acid to the skin can reverse essential fatty acid deficiency symptoms.
research FOXN1 Italian founder mutation in Indian family: Implications in prenatal diagnosis
A rare genetic mutation found in an Indian family can be detected through prenatal screening.
research Familial frontal fibrosing alopecia: A cross‐sectional study of 20 cases from nine families
Frontal fibrosing alopecia in families shows similar signs to individual cases and may have a genetic link.
research A young woman with frontal firbosing alopecia: a case report and review of therapeutic options
FFA in young women is often missed, and no single treatment works best.
research FGF5 is a crucial regulator of hair length in humans
FGF5 gene mutations cause unusually long eyelashes by affecting hair growth regulation.
research Ichthyosis Follicularis with Alopecia and Photophobia Syndrome (IFAP): A Case Report and Review of the Literature
The document describes a rare case of IFAP syndrome, a genetic condition with symptoms of hair loss, light sensitivity, and scaly skin.
research BH15 Nonsyndromic hypotrichosis: a rare case of congenital hypotrichosis 15 and management with minoxidil
Topical minoxidil may help improve hair growth in rare congenital hypotrichosis.
research Untangling the hairy issue of iron deficiency: Making progress
Iron deficiency is common in women regardless of hair loss, and treating it does not usually reverse hair loss.