research A new case of Ambras syndrome associated with a paracentric inversion (8) (q12; q22)
Ambras syndrome's genetic cause is unknown, as it isn't linked to androgen levels.
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90-120 / 1000+ resultsresearch Autosomal recessive ichthyosis with hypotrichosis syndrome: further delineation of the phenotype
A new mutation in the ST14 gene was found in a patient with ARIH syndrome, showing milder symptoms and no tooth issues.
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 From bedside to bench: regulation of host factors in SARS-CoV-2 infection
The conclusion is that certain genetic factors and blood types may affect COVID-19 severity, but changes in ACE2 and TMPRSS2 genes are not clearly linked to it.
research ALOPECIA AREATA IN INFANTS: IS IT UNCOMMON?
Alopecia areata in infants may be more common than previously thought.
research Commentary 2
Genetic factors play a major role in acne.
research Perturbations in fatty acid metabolism and collagen production infer pathogenicity of a novel MBTPS2 variant in Osteogenesis imperfecta
A new MBTPS2 gene variant disrupts fat metabolism and collagen production, causing Osteogenesis imperfecta.
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 Ichthyosis follicularis with alopecia and photophobia (IFAP): late diagnosis in 18‐year‐old man
An 18-year-old man was diagnosed with a rare genetic disorder causing hair loss, severe light sensitivity, and skin issues.
research Ehlers-Danlos syndrome: From bedside to bench
Comprehensive genetic testing and international collaboration are crucial for better understanding and managing Ehlers-Danlos syndromes.
research HAIR LOSS IN WOMEN
Hair loss in women often doesn't follow a pattern, isn't linked to age, may be genetic, and can be related to thyroid issues or other health factors.
research Toxic Epidermal Necrolysis
Toxic Epidermal Necrolysis is a rare, serious skin condition that can affect anyone, is more common in women, and may be linked to genetics, with a 20% mortality rate mainly due to sepsis.
research Olmsted Syndrome Caused by a Homozygous Recessive Mutation in TRPV3
Olmsted syndrome can be inherited as an autosomal recessive trait due to a rare TRPV3 gene mutation.
research Investigation of the male pattern baldness major genetic susceptibility loci AR/EDA2R and 20p11 in female pattern hair loss
AR/EDA2R gene linked to early-onset female hair loss, but 20p11 gene not involved.
research Serum Androgens and Genetic Linkage Analysis in Early Onset Androgenetic Alopecia
Early onset hair loss linked to genetics and androgen levels.
research The hairless gene in androgenetic alopecia: results of a systematic mutation screening and a family-based association approach
Hairless gene not strongly linked to baldness.
research Epidemiology of vitiligo, associated autoimmune diseases and audiological abnormalities: Ankara study of 80 patients in Turkey
Vitiligo is linked to autoimmune diseases and hearing issues, so hearing tests are recommended for patients.
research Androgen receptor gene polymorphisms and risk for androgenetic alopecia: a meta-analysis
G allele of AR Stul polymorphism linked to higher hair loss risk, especially in white people.
research Association analysis of oestrogen receptor beta gene ( ESR2 ) polymorphisms with female pattern hair loss
ESR2 gene variations may be linked to female pattern hair loss.
research Identification of Differentially Expressed Genes During a Wool Follicle Growth Cycle Induced by Prolactin
Certain genes are linked to wool follicle structure and function, but not hair cycle regulation.
research Polymorphism of the Androgen Receptor Gene is Associated with Male Pattern Baldness
Male pattern baldness is linked to specific genetic variations in the androgen receptor gene.
research Genetic association of HLA‐DQB1 and HLA‐DRB1 polymorphisms with alopecia areata in the Italian population
The DQB1*03 allele is linked to higher alopecia areata risk in Italians.
research The human type I keratin gene family: Characterization of new hair follicle specific members and evaluation of the chromosome 17q21.2 gene domain
The study identified and characterized new keratin genes linked to hair follicles and epithelial tissues.
research Analyses of histological and transcriptome differences in the skin of short-hair and long-hair rabbits
Hair length in rabbits is linked to differences in lipid metabolism and cell death.
research Genetic Basis of Male Pattern Baldness
Male pattern baldness is largely genetic, linked to the androgen receptor gene, and may relate to certain health issues.
research Risk of meningioma among users of high doses of cyproterone acetate as compared with the general population: evidence from a population-based cohort study
High doses of cyproterone acetate are linked to an increased risk of developing meningioma.
research Vitiligo
Vitiligo causes white skin patches and is linked to autoimmune issues.
research Turner's syndrome associated with psoriasis and alopecia areata
Turner's syndrome may be linked to autoimmune diseases like psoriasis and alopecia areata, needing comprehensive care.
research Side effects of sodium valproate during long-term treatment in epilepsy
Long-term sodium valproate treatment for epilepsy generally caused mild and temporary side effects.
research High-throughput phenotyping methods for quantifying hair fiber morphology
Hair fiber shape and curvature are not significantly linked when ancestry is considered.