research Mutation in 5′ upstream region of GCH I gene causes familial dopa-responsive dystonia
A specific gene mutation is linked to a hereditary form of dystonia that responds well to certain medications.
Search
for
Sort by
Research
30-60 / 1000+ results 
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.
research To grow or not to grow: Hair morphogenesis and human genetic hair disorders
Genetic mutations can cause hair growth disorders by affecting key genes and signaling pathways.
research Molecular evolution of HR, a gene that regulates the postnatal cycle of the hair follicle
Changes in the HR gene have influenced hair growth and may lead to hair loss conditions in humans.
research Congenital atrichia associated with situs inversus and mesocardia
A 2-year-old boy had no hair and unusual organ placement, and it's unclear if it's genetic or coincidental.
research Predicting therapeutic drugs for hepatocellular carcinoma based on tissue-specific pathways
Securinine and ajmaline may effectively treat liver cancer, with securinine being less toxic to normal cells.
research Two females with hair loss
A mother and daughter have a rare genetic hair loss disorder with no effective treatment.
research Peripheral blood gene expression in alopecia areata reveals molecular pathways distinguishing heritability, disease and severity
Blood tests can help understand the genetic differences in people with alopecia areata, including how severe it is and if it's inherited.
research Genetic Hair Disorders: A Review
The conclusion is that genetic testing is important for diagnosing and treating various genetic hair disorders.
research Werewolf, There Wolf: Variants in Hairless Associated with Hypotrichia and Roaning in the Lykoi Cat Breed
Lykoi cats' unique sparse hair is linked to specific genetic variants in the Hairless gene.
research Commonly associated disorders with complete scalp alopecia in early childhood: A review
Six genetic conditions are often linked to complete scalp hair loss in children.
research Role of Trichoscopy in diagnosing Genotrichosis—A Report of Two Cases
Trichoscopy is crucial for diagnosing rare genetic hair disorders.
research An Investigation of Keratin 15 Function by Small Interfering Ribonucleic Acid Technology
Keratin 15 affects cell behavior and characteristics in skin cells.
research A novel homozygous variant in the dsp gene underlies the first case of non-syndromic form of alopecia
A new gene variant in the DSP gene is linked to a unique type of hair loss.
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 Biology and Genetics of Hair
The document concludes that understanding the genes and pathways involved in hair growth is crucial for developing treatments for hair diseases.
research Mice with Alopecia, Osteoporosis, and Systemic Amyloidosis Due to Mutation in Zdhhc13, a Gene Coding for Palmitoyl Acyltransferase
A gene mutation in mice causes hair loss, weak bones, and protein buildup, showing how protein processing issues can lead to diseases.
research A preliminary study of finasteride in Tourette syndrome
Finasteride reduces Tourette syndrome symptoms, but results may be limited due to potential biases.
research Desferrioxamine treatment of aceruloplasminemia: Long‐term follow‐up
Finasteride may help reduce symptoms in male Tourette syndrome patients.
research Pathological findings in a case of stiff person syndrome with anti‐GAD antibodies
Finasteride significantly reduced tics and obsessive-compulsive symptoms in patients with Tourette syndrome.
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 Encephalitis lethargica due to Epstein–Barr virus infection
Finasteride may help reduce tic severity in male Tourette syndrome patients.
research Congenital hair loss disorders: Rare, but not too rare
Some hair loss disorders are caused by genetic mutations affecting hair growth.
research Werewolf, there wolf: variants in Hairless associated with hypotrichia and roaning in the lykoi cat breed
The unique coat of lykoi cats is likely caused by new variants in the Hairless gene.
research Optimal Management of Hair Loss (Alopecia) in Children
Effective management of children's hair loss involves accurate diagnosis, various treatments, and supportive care.
research Differential diagnosis of hair loss in children. Differentialdiagnose des Haarausfalls bei Kindern
The document concludes that early diagnosis and treatment are crucial for children with hair loss to prevent permanent damage, although not all conditions can be effectively treated.
research A Newborn With Hair Loss
The baby’s hair loss was due to a rare genetic condition, not treatable by usual methods.
research Atrichia congenita with papular lesions: A rare cause of pediatric alopecia
This rare genetic disorder causes permanent hair loss and skin bumps from birth.
research Office Diagnosis of Hair Shaft Defects
The document explains how to identify different hair problems using a microscope.
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.