research A Case of Ayme-Gripp Syndrome
Ayme-Gripp Syndrome was confirmed in a woman through genetic testing, highlighting the need to consider rare genetic conditions in diagnoses.
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research Heterozygous COL5A1 Deletion in a Cat with Classical Ehlers-Danlos Syndrome
A cat's poor wound healing was linked to a genetic deletion in the COL5A1 gene.
research Localized Hypotrichosis Type 1 Due to Intragenic Deletion of Exons 5-8 in Desmoglein Gene in a Neonate from Indian Family
A baby from an Indian family had a rare genetic disorder causing no scalp or body hair due to a specific gene deletion.
research Genome-Wide Target Enrichment-Aided Chip Design: A 66K SNP Chip for Cashmere Goat
Researchers developed a cost-effective 66 K SNP chip for cashmere goats that is accurate and useful for genetic studies.
research Homozygous Nonsense Mutation in DSC3 Resulting in Skin Fragility and Hypotrichosis
A boy's skin fragility and sparse hair were caused by a genetic mutation affecting skin cell adhesion.
research Exome Analysis for Cronkhite-Canada Syndrome: A Case Report
Albumin and prednisone improved symptoms in a woman with Cronkhite-Canada syndrome, revealing potential genetic causes.
research Clinical Case of Alopecia Totalis in Pediatric Practice
An 11-year-old child with total hair loss may have a genetic autoimmune disease, and the outlook for hair regrowth is not good.
research Differential Expression of Keratin and Keratin-Associated Proteins Linked with Hair Loss in Spontaneously Mutated Inbred Mice
Hair loss in certain mice is linked to changes in keratin-related genes.
research Dermal Wnt/β-Catenin Activation Tunably Controls Hair Follicle Initiation
Activating Wnt in skin cells controls the number of hair follicles by directing cell movement and fate.
research Unveiling the Roots of Monogenic Genodermatoses: Genotrichoses as a Paradigm
New gene identification techniques have improved the understanding and classification of inherited hair disorders.
research Molecular Genetics of Keratinization Disorders: What's New About Ichthyosis
Over 67 genes linked to ichthyosis help improve diagnosis and treatment.
research Hair of the Dog: Identification of a Cis-Regulatory Module Predicted to Influence Canine Coat Composition
Researchers found a genetic region that influences the number of coat layers in dogs.
research Lamellar Ichthyosis with Pseudoexon Activation in the Transglutaminase 1 Gene
The boy's severe skin disorder is caused by two new mutations in his TGM1 gene.
research Comprehensive Transcriptome Profiling Between Balding and Non-Balding Scalp of Female Pattern Hair Loss in Asian
SFRP2 and PTGDS may be key factors in female hair loss.
research Single-Cell Transcriptomics Reveals a Senescence-Associated IL-6/CCR6 Axis Driving Radiodermatitis
Blocking certain immune signals can reduce skin damage from radiation therapy.
research A Disease-Causing Novel Missense Mutation in the ST14 Gene Underlies Autosomal Recessive Ichthyosis with Hypotrichosis Syndrome in a Consanguineous Family
A new mutation in the ST14 gene causes a rare skin and hair disorder in a specific family.
research Body Site Heterogeneity and Microbial Diversity Is Lost in Individuals with Hidradenitis Suppurativa
People with Hidradenitis Suppurativa have less diverse skin bacteria and different bacterial metabolism than healthy individuals.
research Altered Hair Root Gene Expression Profiles Highlight Calcium Signaling and Lipid Metabolism Pathways Associated With Curly Hair Initiation and Maintenance in Mangalitza Pigs
Genes related to calcium signaling and lipid metabolism are important for curly hair in Mangalitza pigs.
research A Novel Monilethrix Mutation in Coil 2A of KRT86 Causing Autosomal Dominant Monilethrix with Incomplete Penetrance
A new mutation in the KRT86 gene causes a hair disorder with variable expression.
research Comprehensive Transcriptome Profiling Between Balding and Non-Balding Scalp of Female Pattern Hair Loss in Asian
The research suggests that SFRP2 and PTGDS proteins might be indicators of female pattern hair loss and could contribute to hair loss.
research Distinct Regulatory Programs Control the Latent Regenerative Potential of Dermal Fibroblasts During Wound Healing
Dermal fibroblasts have adjustable roles in wound healing, with specific cells promoting regeneration or scar formation.
research Tracing Selection Signatures in the Pig Genome Provides Evidence for Selective Pressures on a Unique Curly Hair Phenotype in Mangalitza
Selective breeding caused the unique curly hair in Mangalitza pigs.
research A Homozygous Missense Mutation in the Fibroblast Growth Factor 5 Gene Is Associated with the Long-Hair Trait in Angora Rabbits
A specific gene mutation causes long hair in Angora rabbits.
research A Comparative Study of Skin Transcriptomes and Histological Observations for Black and White Hair Colors of Giant Panda
The study found that giant pandas have more melanin in black hair follicles than white, with gene expression differences that could affect hair color and skin health.
research Pathogenesis and Clinical Features of Alopecia in Epidermolysis Bullosa: A Systematic Review
Alopecia in patients with epidermolysis bullosa varies in severity and is often caused by skin blistering or trauma.
research The Rotterdam Study: 2016 Objectives and Design Update
The Rotterdam Study found risk factors for elderly diseases, links between lifestyle and genetics with health conditions, and aimed to explore new areas like DNA methylation and sensory input effects on brain function.
research Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome
Mutations in three genes cause Uncombable Hair Syndrome, leading to frizzy hair that can't be combed flat.
research Bi-Allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex
Mutations in the LSS gene cause a rare type of hereditary hair loss.
research Biotin and Acetazolamide for Treatment of an Unusual Child With Autism Plus Lack of Nail and Hair Growth
Biotin and acetazolamide improved hair and nail growth, mental function, and reduced headaches in a child with autism.
research A Novel NR5A1 Gene Mutation Causing 46, XY DSD Without Adrenal Insufficiency in an Immigrant Boy from Dominican Republic
A boy with a new NR5A1 gene mutation has a sex development disorder without affecting his adrenal glands.