research Identification of a Novel Heterozygous Mutation in the First Japanese Case of Marie Unna Hereditary Hypotrichosis
Researchers found a new genetic mutation causing a rare hair loss condition in the first Japanese child studied.
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research Immune Deficiency-Related Enteropathy-Lymphocytopenia-Alopecia Syndrome Results from Tetratricopeptide Repeat Domain 7A Deficiency
A deficiency in the TTC7A gene causes immune problems, gut issues, and hair loss.
research Delayed-Onset Pachyonychia Congenita Caused by a Novel Mutation in the V2 Domain of Keratin 6B
A new mutation in the K6b gene caused a girl's late-appearing nail condition.
research A Case of Red Lunulae After Hematopoietic Stem Cell Transplantation
Adjusting the medication tacrolimus resolved a boy's red nail beds after a stem cell transplant.
research Alopecia: Association with Resistance to Thyroid Hormones
A specific thyroid hormone resistance mutation may be linked to different types of hair loss.
research Acanthosis Nigricans and the Metabolic Syndrome
Acanthosis nigricans is a skin condition that may indicate a higher risk for insulin resistance and type 2 diabetes, and more research is needed to understand and treat it.
research Pharmacological Activation of Thermo-Transient Receptor Potential Vanilloid 3 Channels Inhibits Hair Growth by Inducing Cell Death of Hair Follicle Outer Root Sheath
Activating TRPV3 channels stops hair growth by killing hair follicle cells.
research Hair Graying and Loss Induced by Imatinib Mesylate
A woman's hair turned gray and fell out after starting a cancer drug called imatinib mesylate.
research Risk of Autoimmune Diseases in Patients with RASopathies: Systematic Study of Humoral and Cellular Immunity
Patients with RASopathies have a higher risk of autoimmune disorders and should be routinely screened.
research MicroRNAs and Their Regulatory Interactions in the Human Hair Follicle
The research found that certain microRNAs are important for human hair growth and health.
research Androgen Action and 3D Culture Conditions Influence Dermal Papilla Cells' Inductive Properties: The Role of Wnt Agonists/Antagonists Balance
DHT reduces a cell's ability to promote hair growth, while 3D culture without DHT improves it.
research The Endocannabinoid Tone Regulates Human Sebocyte Biology
The endocannabinoid system affects oil production and inflammation in skin cells.
research An Underlying Mechanism of Hair Loss in Acrodermatitis Enteropathica
Zinc deficiency disrupts hair growth and cycle, but zinc supplements can fix this.
research Unveiling the Role of Estradiol in the Pathogenesis of Female Pattern Hair Loss
research Germline Mutation in ATR in Autosomal-Dominant Oropharyngeal Cancer Syndrome
A specific ATR gene mutation is linked to a hereditary oropharyngeal cancer syndrome.
research Risk of Autoimmune Diseases in Patients with RASopathies: Systematic Study of Humoral and Cellular Immunity
Patients with RASopathies are at risk for autoimmune disorders and should be routinely screened.
research Activation of TRPV3 Regulates Inflammatory Actions of Human Epidermal Keratinocytes
TRPV3 in skin cells causes inflammation and cell death.
research Transglutaminase Activity Is Conserved in Stratified Epithelia and Skin Appendages of Mammals and Birds
Transglutaminase activity is important for skin and is found in both mammals and birds.
research Sebaceous Carcinoma Arising at a Chronic Candidiasis Skin Lesion of a Patient with Keratitis-Ichthyosis-Deafness (KID) Syndrome
A man with KID syndrome developed a rare cancer in a long-term skin infection.
research Case Report: Acrodermatitis Enteropathica Resulting 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 Clinical and Genetic Findings in a Chinese Family with VDR-Associated Hereditary Vitamin D-Resistant Rickets
A Chinese family had a child with a specific gene mutation causing vitamin D-resistant rickets, but the child improved with calcium and low-dose calcitriol.
research Novel Compound Heterozygous Cadherin 3 Mutations in Hypotrichosis and Juvenile Macular Dystrophy
Two new mutations in the CDH3 gene cause hair loss and vision problems in a young girl.
research Loss-Of-Function Mutations of an Inhibitory Upstream ORF in the Human Hairless Transcript Cause Marie Unna Hereditary Hypotrichosis
Certain mutations in a hair growth-related gene cause a type of genetic hair loss.
research Phenotypic Variability Associated with WNT10A Nonsense Mutations
WNT10A mutations cause varied symptoms in patients with odonto-onycho-dermal dysplasia.
research Mutations in the Desmoglein 4 Gene Are Associated with Monilethrix-Like Congenital Hypotrichosis
Mutations in the DSG4 gene can cause a rare hair disorder similar to monilethrix.
research Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy Syndrome (APECED) Due to AIRE T16M Mutation in a Consanguineous Greek Girl
An 11-year-old Greek girl was diagnosed with a rare genetic disorder, highlighting the importance of genetic testing and family history.
research Odd-Looking Hair and Progressive Alopecia in Mother and Son
Mother and son diagnosed with a rare genetic hair loss condition with no effective treatment.
research Unexpectedly High Carrier Rates and Genotype/Phenotype Correlation: LIPH Mutations in Japanese Autosomal Recessive Woolly Hair/Hypotrichosis
Certain gene mutations in Japanese people are linked to different types of hair loss, with some causing mild hair thinning and others leading to complete baldness.
research Relationship of a Novel c.429delC Deletion in Hairless Gene HR with Alopecia in Two Families from Southern Punjab, Pakistan
A new mutation in the Hairless gene causes hair loss in two Pakistani families.
research Granulomatous Skin Involvement in a Patient with an Unusual NOD2 Mutation
A rare genetic mutation caused unusual skin symptoms in a man with Blau syndrome.