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60-90 / 1000+ resultsresearch Human hair melanins: what we have learned and have not learned from mouse coat color pigmentation
We know a lot about mouse hair color, but not much about human hair color differences.
research Hyperandrogenism and insulin resistance modulate gravid uterine and placental ferroptosis in PCOS-like rats
Hyperandrogenism and insulin resistance in PCOS-like rats can lead to pregnancy complications due to increased cell death in the uterus and placenta.
research Human hair melanins: what we have learned and have not learned from mouse coat color pigmentation
We know less about human hair pigmentation than mouse coat color, but pH and cysteine levels are key factors.
research Dendritic Cell–Associated MARCKSL1 Regulates Fibroblast Differentiation During Wound Healing
MARCKSL1 is important for wound healing and could be a target to reduce scarring.
research Integrated Meta-Analysis of Scalp Transcriptomics and Serum Proteomics Defines Alopecia Areata Subtypes and Core Disease Pathways
Early intervention in patch-type alopecia may prevent progression to more severe forms by targeting immune pathways and preserving keratin.
research 1367 Inhibition of the mitochondrial pyruvate carrier promotes ATF4–dependent stress responsive metabolic rewiring and cell cycle arrest in the human hair follicle
Blocking a key energy pathway in human hair follicles can trigger stress responses that stop cell growth.
research Case Report: A Chinese Family of Woodhouse-Sakati Syndrome With Diabetes Mellitus, With a Novel Biallelic Deletion Mutation of the DCAF17 Gene
A new mutation in the DCAF17 gene was found in a Chinese family, causing Woodhouse-Sakati syndrome and diabetes.
research DSP c.6310delA p.(Thr2104Glnfs*12) associates with arrhythmogenic cardiomyopathy, increased trabeculation, curly hair, and palmoplantar keratoderma
A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.
research 898 Homeostatic activation of epidermal HSD11b1 affects skin innervation and non-histaminergic itch
HSD11b1 affects skin nerves and increases non-histaminergic itch.
research The Use of High-Density SNP Array to Map Homozygosity in Consanguineous Families to Efficiently Identify Candidate Genes: Application to Woodhouse-Sakati Syndrome
Using SNP array testing helped quickly find the gene causing Woodhouse-Sakati syndrome in two related individuals.
research Cantú Syndrome Is Caused by Mutations in ABCC9
Cantú syndrome is caused by mutations in the ABCC9 gene.
research ROOT HAIR DEFECTIVE SIX ‐LIKE 4 (RSL 4) promotes root hair elongation by transcriptionally regulating the expression of genes required for cell growth
The protein RSL4 is crucial for making root hairs longer by controlling genes related to cell growth.
research Integration of Point-of-Care Technology in the Decoding Process of Single Nucleotide Polymorphism for Healthcare Application †
Portable point-of-care testing can improve quick and accurate genetic disorder detection.
research Selective complete Clq deficiency associated with systemic lupus erythematosus.
Clq deficiency is linked to systemic lupus erythematosus symptoms.
research LB1007 Systemic treatment with a KLK5 inhibitor shows efficacy in a murine model of Netherton syndrome
A KLK5 inhibitor effectively improved skin symptoms in a mouse model of Netherton Syndrome.
research The gene for autosomal dominant hidrotic ectodermal dysplasia (Clouston syndrome) in a large Indian family maps to the 13q11-q12.1 pericentromeric region
The gene for Clouston syndrome in a large Indian family is located in the 13q11-q12.1 region.
research A New Heterozygous Variant of c.1225_1227delTTC (p.Phe409del) in Insulin Receptor Gene Associated with Severe Insulin Resistance and Hyperandrogenemia in an Adolescent Female with Type A Severe Insulin Resistance Syndrome
A specific gene variant is linked to severe insulin resistance and hormone imbalance in a teenage girl.
research An ultrahigh-sulphur keratin gene of the human hair cuticle is located at 11q13 and cross-hybridizes with sequences at 11p15
research Novel splicing‐site mutation in DCAF17 gene causing Woodhouse‐Sakati syndrome in a large consanguineous family
A new mutation in the DCAF17 gene was found to cause Woodhouse-Sakati syndrome in a large family.
research Identification of seven new prostate cancer susceptibility loci through a genome-wide association study
Seven new genetic risk areas for prostate cancer were found.
research 688 Precise and efficient editing of the COL7A1 gene in RDEB derived iPSCs with CRISPR/Cas9 and prime editing
CRISPR/Cas9 and prime editing can potentially fix skin disorder genes safely and effectively.
research Analysis of the relationship between the mutation site of the SLC39A4 gene and acrodermatitis enteropathica by reporting a rare Chinese twin: a case report and review of the literature
New mutations in the SLC39A4 gene found in twins help understand the genetic cause of acrodermatitis enteropathica.
research Curly : a new hair defect mutation in the SELH/bc mouse strain
The curly mutation in SELH/Bc mice affects hair and may help study human genetic disorders.
research Scd1 ab-Xyk : a new asebia allele characterized by a CCC trinucleotide insertion in exon 5 of the stearoyl-CoA desaturase 1 gene in mouse
A new mouse mutation causes skin and hair defects due to a gene change.
research DIAGNOSTIC VALUE OF CHROMOSOMAL MICROARRAY ANALYSIS IN PATIENTS WITH CONGENITAL ANOMALIES AND DYSMORPHIC FEATURES; DETAILS OF TWO NEW PATIENTS WITH 2q33 DELETIONS
Chromosomal microarray analysis is important for diagnosing rare genetic variations and guiding treatment.
research Identification and expression of the target gene SLC24A2 of oar-miR-377 and its novel SNPs effects on wool traits in sheep
The TT genotype of a specific SNP in sheep is linked to better wool quality.
research Birt-Hogg-Dube Syndrome with a Novel Mutation in the FLCN Gene
A new mutation in the FLCN gene linked to Birt-Hogg-Dube syndrome was found, suggesting people with certain lung collapse should be tested for this mutation and screened for kidney and colon cancer.
research Novel Mutation in Sjögren-Larsson Syndrome Is Associated With Divergent Neurologic Phenotypes
The same genetic mutation in Sjögren-Larsson syndrome can lead to different levels of severity, suggesting other factors influence the symptoms.
research Association of Anti-Signal Recognition Particle Myopathy with Systemic Lupus Erythematosus
This case study describes a 17-year-old girl with Graves' disease who developed anti-signal recognition particle (SRP) positive necrotizing autoimmune myopathy (NAM) associated with systemic lupus erythematosus (SLE). The patient presented with symptoms including proximal muscle weakness, dysphagia, weight loss, and a discoid rash, fulfilling the criteria for SLE. Laboratory tests revealed elevated creatine kinase levels and positive anti-SRP antibodies, confirming NAM. Despite the typical poor response of anti-SRP myopathy to corticosteroids, the patient showed significant improvement in muscle strength and CK levels after treatment with oral prednisolone and methotrexate. This case highlights the rare association of anti-SRP myopathy with SLE, expanding the spectrum of autoimmune diseases linked to anti-SRP myopathy.