research A Japanese Case of Ichthyosis Follicularis with Atrichia and Photophobia Syndrome with an MBTPS2 Mutation
A Japanese patient with IFAP syndrome had a severe MBTPS2 gene mutation but showed milder symptoms than previously observed cases.
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research Marie Unna Hereditary Hypotrichosis Caused by a Novel Mutation in the Human Hairless Transcript
A new mutation in the HR gene causes hair loss in a specific family.
research Increased Macrophage Migration Inhibitory Factor in the Sera of Patients with Extensive Alopecia Areata
Patients with severe alopecia areata have higher levels of MIF, which decrease after successful treatment.
research Targeted Expression of SV40 T Antigen in the Hair Follicle of Transgenic Mice Produces an Aberrant Hair Phenotype
SV40 T antigen in hair follicles causes abnormal hair and health issues in mice.
research Novel Missense Mutation in the EDA Gene in a Family Affected by Oligodontia
Researchers found a new mutation in the EDA gene that likely causes missing teeth and mild skin symptoms in one family.
research Congenital Atrichia and Hypotrichosis
The document emphasizes the importance of correctly identifying and classifying genetic hair disorders to help diagnose related health conditions.
research The Effects of Estrogens on Linear Bone Growth
Estrogens are key for bone growth spurts in both boys and girls and affect growth into adulthood.
research Biotinidase Deficiency Characterized by Skin and Hair Findings
Biotin supplements improved skin and hair problems in a girl with biotinidase deficiency.
research Deficiency of the Human Cysteine Protease Inhibitor Cystatin M/E Causes Hypotrichosis and Dry Skin
Lack of cystatin M/E causes thin hair and dry skin.
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 NEMO Syndrome (Incontinentia Pigmenti) and Systemic Lupus Erythematosus: A New Disease Association
NEMO syndrome and systemic lupus erythematosus are linked in a new disease association.
research No Evidence for THAP1/DYT6 Variants as Disease Modifiers in DYT1 Dystonia
THAP1 gene changes do not affect DYT1 dystonia; finasteride may help reduce tics and OCD in Tourette syndrome.
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 Molecular Genetics of Alopecias
Scientists have found specific genes linked to different hair loss conditions, which could lead to new treatments.
research The Androgen Receptor Gene Polyglycine Repeat Polymorphism Is Associated With Memory Performance In Healthy Chinese Individuals
Certain gene variations are linked to better memory in healthy Chinese women.
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 Cleave But Not Leave: Astrotactin Proteins in Development and Disease
Astrotactin proteins are important for brain and skin development and are linked to several neurodevelopmental disorders.
research Alopecia in a Viable Phospholipase C Delta 1 and Phospholipase C Delta 3 Double Mutant
Mutations in Plcd1 and Plcd3 together cause severe hair loss in mice.
research Identification and Characterization of a Novel Pathogenic Mutation in the Human Lipodystrophy Gene AGPAT2
A new mutation in the AGPAT2 gene causes severe fat tissue loss and related health issues by reducing the protein's levels.
research Alopecia: Association with Resistance to Thyroid Hormones
A specific thyroid hormone resistance mutation may be linked to different types of hair loss.
research Autoimmune Gastritis and Parietal Cell Reactivity in Two Children with Abnormal Intestinal Permeability
Children with autoimmune gastritis showed improved intestinal health over time and should be checked for other autoimmune conditions.
research Variable Expressivity of Syndromic BMP4-Related Eye, Brain, and Digital Anomalies: A Review of the Literature and Description of Three New Cases
BMP4-related anomalies can cause a wide range of eye, brain, and hand/foot problems, and new cases show this variability.
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 Current Status of Hair Restoration Surgery
In 2011, hair restoration was a specialized field in plastic surgery, using techniques like "Ultrarefined follicular unit hair transplantation" to minimize scarring and promote hair growth, with future treatments like stem cell therapy and hair cloning still being tested.
research Mutation in 5′ Upstream Region of GCHI Gene Causes Familial Dopa-Responsive Dystonia
A specific gene mutation is linked to a hereditary form of dystonia that responds well to certain medications.
research A New Locus for Hereditary Hypotrichosis Simplex Maps to Chromosome 13q12.12-12.3 in a Chinese Family
A new genetic area linked to a rare hair loss condition was found on chromosome 13 in a Chinese family.
research Alopecia in Children
Most hair loss in children is caused by a few common conditions and is easy to diagnose, but rare types require careful evaluation.
research Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets (HVDRR): Clinical Heterogeneity and Long-Term Efficacious Management of Eight Patients from Four Unrelated Arab Families with a Loss of Function VDR Mutation
Patients with the same genetic mutation for vitamin D-resistant rickets showed different symptoms but all improved with treatment except for hair loss.
research CD201+ Fascia Progenitors Choreograph Injury Repair
CD201+ fascia progenitors are essential for wound healing and could be targeted for treating skin conditions.
research Ability to Cycle Despite Severe Freezing of Gait in Atypical Parkinsonism in Fahr's Syndrome
Finasteride significantly reduced tics and obsessive-compulsive symptoms in Tourette syndrome patients.