research A novel missense mutation (C622G) in the zinc‐finger domain of the human hairless gene associated with congenital atrichia with papular lesions
A new gene mutation causes a rare type of hair loss.
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870-900 / 1000+ resultsresearch Identification and characterization of Birt–Hogg–Dubé associated renal carcinoma
Somatic BHD mutations are rare in Japanese renal tumors.
research Papular atrichia
An 8-year-old girl has a rare, irreversible hair loss condition caused by a genetic mutation.
research Recurrent E413K Mutation of hHb6 in a Japanese Family with Monilethrix
The E413K mutation in the hHb6 gene causes monilethrix, a hair disorder, but doesn't show consistent symptoms.
research Gastrointestinal polyposis with protein-losing enteropathy, abnormal skin pigmentation and loss of hair and nails (Cronkhite-Canada syndrome)
Cronkhite-Canada Syndrome often leads to death within 6-18 months.
research Alopecia totalis in an infant
An infant with complete hair loss was diagnosed with a genetic disorder affecting hair growth.
research Unilateral nevoid hyperkeratosis of the nipple and areola in a Saudi female
Calcipotriol cream reduced skin thickening and itching in a rare nipple condition.
research Partial biotinidase deficiency: Clinical and biochemical features
Children with partial biotinidase deficiency are healthy at birth but may develop symptoms that improve with biotin therapy.
research A 14-Year-Old Boy with Lower Extremity Swelling and Petechial Rash
The boy's symptoms improved with vitamin C treatment, highlighting the need to consider scurvy in kids with unusual diets.
research Natural course of epidermolysis bullosa simplex with mottled pigmentation in a Japanese family with the p.P25L mutation in KRT 5
The p.P25L mutation in the KRT5 gene causes a rare skin condition that worsens over time and may lead to hair loss starting in young adulthood.
research A 36-Year-Old Woman With an Unexpected Cause of Hypokalemia
A 36-year-old woman with low potassium levels was found to have Cushing disease, and after treatment, her potassium levels normalized.
research Clouston syndrome: A complete genotype–Phenotype correlation after four decades and six generations
Clouston syndrome is inherited in an autosomal dominant pattern and caused by a specific gene mutation, with no current treatment available.
research Vitamin D inhibits captopril-induced cell detachment and apoptosis in keratinocytes
Vitamin D protects skin cells from damage caused by captopril.
research Vitamin D and microRNAs
Vitamin D affects many body functions and its interaction with microRNAs could help treat related diseases.
research Monilethrix in three generations
Monilethrix, a genetic hair disorder causing fragile hair, affects three generations in a family.
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 Extraskeletal actions of vitamin D
Vitamin D has potential benefits for cancer prevention, heart health, diabetes, obesity, muscle function, skin health, and immune function, but clinical results are mixed and more research is needed.
research Total melanonychia of 20 nails as a rare manifestation of vitamin B12 deficiency
Vitamin B12 deficiency can cause darkening of all nails.
research Atrichia with papular lesions resulting from a novel insertion mutation in the human hairless gene
Researchers found a new mutation causing total hair loss from birth.
research Reversible Facial Hyperpigmentation Associated With Vitamin B12 Deficiency
Vitamin B12 deficiency can cause facial dark spots that go away with treatment.
research Atrichia with Papular Lesions in a Chinese Family Caused by Novel Compound Heterozygous Mutations and Literature Review
New genetic mutations causing hair loss were found in a Chinese family.
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 An autosomal recessive nonsense variant in the EGFR gene induces perinatal lethality in “Blonde d'Aquitaine” calves
A genetic variant in "Blonde d'Aquitaine" calves causes death at birth due to a missing protein.
research Hair calcium paradox – a report of two cases of a controlled intermittent dietary calcium, magnesium and vitamin D supplementation vs. a case of non supplementation
Tailored supplementation of calcium, magnesium, and vitamin D based on hair analysis may improve bone health.
research Autosomal dominant monilethrix with incomplete penetrance due to a novel KRT86 mutation in a Chinese family
research A rare cause of irrevocable childhood alopecia feigning alopecia universalis: Atrichia congenita with papular lesions
An 8-year-old girl has a rare genetic disorder causing complete, irreversible hair loss and skin bumps.
research Physiological and retinoid-induced proliferations of epidermis basal keratinocytes are differently controlled
Normal skin cell renewal doesn't need RAR signaling, but vitamin A-related skin thickening does.
research FOXN1 Italian founder mutation in Indian family: Implications in prenatal diagnosis
A rare genetic mutation found in an Indian family can be detected through prenatal screening.
research Generalised Glucocorticoid Resistance
Mutations in the glucocorticoid receptor gene cause reduced sensitivity to glucocorticoids and may lead to poor response to treatment.
research Alopecia areata as a clinical manifestation of autoimmune inflammation due to vitamin D deficiency
Lack of vitamin D might cause hair loss due to autoimmune problems, and fixing vitamin D levels could help treat it.