research Autosomal recessive woolly hair/hypotrichosis with homozygous mutation in the LIPH gene: a case report
A genetic mutation in the LIPH gene causes a rare hair disorder with sparse, curly hair.
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960-990 / 1000+ resultsresearch Genotype–Phenotype Correlation in Children With Congenital Adrenal Hyperplasia due to 21‐Hydroxylase Deficiency Using Next Generation Sequencing
Severe genetic variants in children with a specific adrenal condition match predicted symptoms well, but milder variants do not.
research Maternal androgen excess induces cardiac hypertrophy and left ventricular dysfunction in female mice offspring
High levels of male hormones in pregnant mice cause heart enlargement and poor heart function in their female babies.
research Novel splice site mutation in the LIPH gene in a patient with autosomal recessive woolly hair/hypotrichosis: Case report and published work review
A new mutation in the LIPH gene was found to cause a rare hair disorder in a Japanese boy.
research Premature Greying of Hair (Premature Canities): A Concern for Parent and Child
Genetics, stress, and health issues can cause early hair greying, which affects self-esteem, and there's no cure, only hair dye.
research Alopecia and the Aging Male
Male pattern baldness is common, treatable, and may be linked to heart disease and prostate cancer.
research Dermatopathology and molecular genetics
Combining skin tissue pathology with genetics has greatly improved the diagnosis and understanding of certain skin diseases.
research Woodhouse-Sakati Syndrome Due to the Rare DCAF17 c.321+1G>A Mutation: The Second Case Report Worldwide
A rare genetic mutation causes Woodhouse-Sakati syndrome symptoms.
research Clinical and Molecular Genetic Findings of Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
Genetic analysis is crucial for diagnosing and managing cerebral arteriopathy.
research The urine as a diagnostic key for a homozygous EGFR mutation
A rare EGFR mutation in newborns leads to severe health issues and early death.
research Registrars’ Symposium: Summaries of Papers
Lower adrenal hormone levels may cause hair loss in postmenopausal women, certain patterns help diagnose nail cancer, and a gene variant linked to higher skin cancer risk in kidney transplant patients suggests monitoring folate levels.
research 537 Periodontitis may increase risk of alopecia areata: A nationwide population-based cohort study in Korea
Periodontitis may increase the risk of developing alopecia areata.
research LB1053 Dysregulation of antioxidant enzyme PRDX5 in alopecia areata
PRDX5 enzyme may contribute to alopecia areata by affecting oxidative stress and autoimmunity.
research Fractal Pattern in the Premature Graying of Hair: A Case Report
A 32-year-old man with early graying hair shows a unique pattern, suggesting more research is needed on why hair grays early.
research A 9-month-old infant with severe scalp dermatosis
The infant likely has Hay-Wells syndrome and needs genetic testing and heart screening.
research Androgenic alopecia may have evolved to protect men from prostate cancer by increasing skin exposure to ultraviolet radiation
Male pattern baldness might have evolved to help protect against prostate cancer by increasing UV radiation on the scalp.
research Clinical and demographic factors associated with nail involvement in adult alopecia areata patients at Al-Kadhmia teaching hospital, Baghdad, 2023
Nail changes in alopecia areata are common and may indicate severity and genetic risk.
research Dermatopathia Pigmentosa Reticularis: Report of a New Cases and Literature Review
DPR can show different hair characteristics, as seen in two brothers with normal hair.
research SAT0200 UNUSUAL SYSTEMIC LUPUS ERYTHEMATOSUS/SJOEGREN'S SYNDROME PHENOTYPE IN A PATIENT WITH A TNFAIP3 GENE MUTATION
A TNFAIP3 gene mutation can cause unusual and varied symptoms of lupus and Sjogren's syndrome.
research What does acne genetics teach us about disease pathogenesis?
Acne is significantly influenced by genetics, and understanding its genetic basis could lead to better, targeted treatments.
research Keratin 17 mutations cause either steatocystoma multiplex or pachyonychia congenita type 2
Keratin 17 gene mutations cause both steatocystoma multiplex and pachyonychia congenita type 2.
research Sperm aneuploidy in infertile male patients: a systematic review of the literature
Infertile men are more likely to produce sperm with abnormal chromosome numbers, which can affect pregnancy success and embryo health.
research Evaluation of the Coincidence of Male Pattern Baldness andPityrosporumGroup Fungal Contamination in Iran
No significant link was found between male pattern baldness and Pityrosporum fungi.
research Banded Scalp Hair with an Unusual Glistening Appearance in a Teenager: A Quiz
A teenager's hair with alternating white and dark bands, known as Pili annulati, is a genetic condition that is usually harmless and often considered attractive.
research [Analysis of human hair basic keratin 6 gene mutation in a Chinese Han family with monilethrix].
A gene mutation causes monilethrix in a Chinese family.
research Prostate cancer and androgenic alopecia
The document suggests more research is needed to understand the link between baldness and prostate cancer.
research NIPAL4 mutation c.527C˃A identified in Romanian patients with autosomal recessive congenital ichthyosis
The NIPAL4 mutation c.527C>A is common in Romanian patients with autosomal recessive congenital ichthyosis.
research Short anagen hair syndrome is caused by mutations in the WNT10A gene and has a genetic overlap with male pattern hair loss
Mutations in the WNT10A gene cause Short Anagen Hair syndrome and increase the risk of male pattern hair loss.
research Genetic variations associated with response to dutasteride in the treatment of male subjects with androgenetic alopecia
Genetic variations affect dutasteride treatment response for male pattern hair loss.
research Variant 1859G→A (Arg620Gln) of the “Hairless” Gene: Absence of Association with Papular Atrichia or Androgenetic Alopecia
Haplogroup X found in Altaian population supports Amerindian origin.