research Panfolliculoma: Report of the Youngest Case and Literature Review of Its Histopathologic Variants
A 14-year-old boy is the youngest person reported with a rare, benign tumor related to hair follicles, usually found in older people.
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870-900 / 1000+ resultsresearch Challenges associated with the identification of germline variants on myeloid malignancy genomic profiling—a Singaporean experience
Genomic profiling for myeloid cancers can find important inherited mutations, but it's challenging when these mutations aren't related to the patient's symptoms.
research Pathogenic variants affecting peptidyl arginine deiminase 3 and its major substrates underlie central centrifugal cicatricial alopecia
Genetic variants in specific genes cause central centrifugal cicatricial alopecia.
research Heterozygous Variants of the SLC39A4 Gene and Possible Increased Risk for Developing Acrodermatitis Enteropathica with Kaposi’s Varicelliform Eruption
Genetic testing is crucial for diagnosing and treating acrodermatitis enteropathica effectively.
research Genetic Variant of the Canine FGF5 Gene for the Hair Length Trait in the Akita: Utility for Hair Coat Variations and Welfare in Conservation Breeding
The FGF5 gene variant causes long hair in Akitas, and genetic testing is advised to manage coat length and welfare.
research Hypotrichosis 14: novel variants of the LSS gene in five Chinese families and insights from literature review
New LSS gene variants help understand congenital hypotrichosis 14 better.
research Loose Anagen Hair Associated with Wooly Hair Caused by a Heterozygous, Intronic KRT71 Variant
A genetic variant in the KRT71 gene may cause loose anagen hair and wooly hair, and symptoms might improve with age.
research Tru9I Variant as a Novel Genetic Marker for Vitamin D Deficiency in Alopecia Areata
The Tru9I variant in the VDR gene may influence alopecia areata risk and vitamin D levels.
research Zinc transporter ZIP13 G289R variant from Spondylocheirodysplastic Ehlers-Danlos syndrome (SCD-EDS) is associated with abnormal hair quality
The ZIP13 variant is linked to abnormal hair quality.
research Localized variant of junctional epidermolysis bullosa with R795X mutation
Early and accurate diagnosis is crucial for managing rare genetic disorders like this localized variant of junctional epidermolysis bullosa.
research Correlation between Androgenetic Alopecia and Severe Acute Respiratory Syndrome Coronavirus 2 Omicron Variant Infection in China
People with androgenetic alopecia had milder COVID-19 symptoms during the Omicron wave in China.
research The role of candidate pharmacogenetic variants in determining valproic acid efficacy, toxicity and concentrations in patients with epilepsy
Genetic variants can affect valproic acid's effectiveness, side effects, and levels in epilepsy treatment.
research 50832 Confetti variant of Alopecia Areata: A Single Center Retrospective Study to Describe a Novel Entity
A new type of alopecia areata, called the "confetti variant," causes small bald spots that often heal on their own in a few months.
research Genetic variants in androgenetic alopecia: insights from scalp RNA sequencing data
Certain genetic variants and pathways are linked to hair loss.
research A nonsense variant in KRT31 is associated with autosomal-dominant monilethrix
A variant in the KRT31 gene causes a rare hereditary hair disorder called monilethrix.
research ADAM17 variant causes hair loss via ubiquitin ligase TRIM47 mediated degradation
A variant in the ADAM17 gene causes hair loss by increasing protein degradation through TRIM47.
research Novel variant in WNT10A caused short anagen hair syndrome in a Chinese pedigree
A new change in the WNT10A gene caused a condition leading to short hair growth in a Chinese family.
research Genetic Association Between Polycystic Ovary Syndrome and the APOA5 rs662799 and PLIN1 rs894160 Metabolic Variants in the Western Saudi Population: A Case-Control Study
Certain genetic variants may increase the risk of developing PCOS.
research A case of MBTPS1 ‐related disorder due to compound heterozygous variants in MBTPS1 gene: Genotype–phenotype expansion and the emergence of a novel syndrome
A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.
research Twins with psychiatric features and a nonsense HRAS variant affecting transcript processing
A new HRAS gene variant may cause a range of symptoms including intellectual disability and psychiatric issues.
research A new heterozygous frameshift variant in keratin 10 resulting in ichthyosis hystrix in a father and daughter
A new genetic change in the keratin 10 gene caused a skin condition called ichthyosis hystrix in a father and his daughter.
research Independent DSG4 frameshift variants in cats with hair shaft dystrophy
Cats with abnormal hair had DSG4 gene changes causing hair problems.
research Adnexotropic Variants of the Interface Dermatitides: A Review
The review emphasizes the need to recognize skin conditions that affect hair follicles and sweat glands to avoid misdiagnosis.
research Gene Variant in Amish a Clue to Better Aging
A genetic mutation linked to longer life and less disease was found in the Amish, and a drug is being developed to replicate these benefits.
research 5α-Reductase type 2 gene variant associations with prostate cancer risk, circulating hormone levels and androgenetic alopecia
Gene variant linked to prostate cancer, hormone levels, and hair loss.
research Susceptibility variants for male-pattern baldness on chromosome 20p11
research Common Variants in the Sex Hormone-Binding Globulin (SHBG) Gene Influence SHBG Levels in Women with Polycystic Ovary Syndrome
Certain SHBG gene variants, like rs727428, are linked to higher testosterone levels in women with PCOS.
research Genetic variants in pachyonychia congenita-associated keratins increase susceptibility to tooth decay
Certain genetic variants in keratins increase the risk of tooth decay.
research Alopecia Areata: A Review of the Genetic Variants and Immunodeficiency Disorders Associated with Alopecia Areata
Alopecia areata is an autoimmune hair loss condition linked to genetic factors.
research Minoxidil Sulfotransferase Enzyme (SULT1A1) genetic variants predicts response to oral minoxidil treatment for female pattern hair loss
Genetic variants affect minoxidil hair loss treatment success.