research Pre-pregnancy BMI as a Risk Factor: Associations with Maternal Hair Cortisol and Child Psychopathology at Age Two
Higher pre-pregnancy BMI is linked to more stress in mothers and more behavioral problems in two-year-old children.
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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 A Tale of Two Haplotypes: The EDA2R/AR Intergenic Region is the Most Divergent Genomic Segment between Africans and East Asians in the Human Genome
The most different genetic segment between Africans and East Asians is the EDA2R/AR region, with two main types influenced by population changes and natural selection, and linked to baldness.
research Atrichia with papular lesions in a Taiwanese patient without hairless (HR) gene mutation
A Taiwanese patient had hair loss and skin bumps without the usual gene mutation, suggesting other genetic factors might be involved.
research Investigation of Vaspin and Visfatin -4689G/T Gene Polymorphisms in Alopecia Areata Patients
The visfatin GT genotype may increase the risk of Alopecia Areata.
research Six Novel Susceptibility Loci for Early-Onset Androgenetic Alopecia and Their Unexpected Association with Common Diseases
Six new genetic regions linked to early hair loss also connect to Parkinson's disease and prostate cancer, possibly leading to new treatments.
research RBPJ Mutations Identified in Two Families Affected by Adams-Oliver Syndrome
Mutations in the RBPJ gene cause Adams-Oliver Syndrome.
research Genetics of Diabetes in Childhood
Certain genes are linked to type 1 and type 2 diabetes in kids, and changes in these genes can also cause other diabetes-related conditions.
research Clinical Case Notes. Intraorbital ophthalmic artery aneurysms
Eye exams are crucial for kids with 13q deletion syndrome, tamoxifen can cause vision loss, Propecia may lead to cataracts, Lipoid Proteinosis causes skin bumps, and OCT is useful for diagnosing macular diseases.
research Evaluation of Premature Pubarche Cases: A Single CenterExperience
Careful diagnosis is crucial for premature pubarche, as 20% of cases have other conditions.
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 Papillon–Lefèvre Syndrome: A Rare Case Report of Two Brothers and Review of the Literature
Papillon-Lefèvre Syndrome causes early tooth loss and skin issues, needing early dental diagnosis.
research PA31 Congenital alopecia areata: a systematic review
Congenital alopecia areata may have genetic links and topical corticosteroids are an effective treatment.
research High-coverage genome of the Tyrolean Iceman reveals unusually high Anatolian farmer ancestry
The Tyrolean Iceman had mostly Anatolian farmer ancestry and traits like darker skin and a risk for certain health issues.
research The Association of Gene Expression and Single Nucleotide Polymorphism (rs 6152 SNP) in Androgen Receptor Gene with Recurrent Spontaneous Abortion (RSA) in Iraqi Women
The androgen receptor gene doesn't affect women with recurrent spontaneous abortions, but having a mutant genotype might protect against it.
research Association of Human Beta – Defensin 1 Gene Polymorphisms with Alopecia Areata Patients
Certain gene variations may increase the risk and severity of alopecia areata.
research Evaluation of Susceptibility Genes/Loci Associated with Male Androgenetic Alopecia (MAGA) for Female-Pattern Hair Loss in a Chinese Han Population and a Brief Literature Review
Male and female hair loss have different genetic causes.
research Papular atrichia
An 8-year-old girl has a rare, irreversible hair loss condition caused by a genetic mutation.
research Identification of a recurrent nonsense mutation in HR gene responsible for atrichia with papular lesions in two Kashmiri families
A mutation in the HR gene causes a rare form of irreversible hair loss in two Kashmiri families. Whole exome sequencing is effective for finding such mutations.
research The Effectiveness of Forensic Science in the Criminal Justice System - Tasmanian Institute of Law Enforcement Studies (TILES)
Korean adolescents with androgenetic alopecia often have a family history, milder symptoms than adults, and normal hormone levels.
research Biochemical Roles of Testosterone and Epitestosterone to 5α-Reductase as Indicators of Male-Pattern Baldness
High testosterone to epitestosterone ratio in hair could predict male-pattern baldness.
research Keratosis pilaris atrophicans faciei: An observational, descriptive, retrospective clinical study
Early diagnosis of Keratosis pilaris atrophicans faciei can lead to better, personalized treatments.
research Familial hypertriglyceridemia in pregnancy
HIV-positive pregnant women are more likely to experience severe bleeding, and a pregnant woman with familial hypertriglyceridemia had a successful early delivery with special care.
research The risk of coronary heart disease in men with androgenetic alopecia
Baldness may indicate higher heart disease risk in men.
research Early Psychosocial Exposures, Hair Cortisol Levels, and Disease Risk
research A Powerful Method for Pleiotropic Analysis under Composite Null Hypothesis Identifies Novel Shared Loci Between Type 2 Diabetes and Prostate Cancer
The new method found new shared genetic areas linked to both Type 2 Diabetes and Prostate Cancer.
research Male pattern hair loss: Can developmental origins explain the pattern?
Male pattern hair loss may be linked to the developmental origins of hair follicles.
research Forme létale de syndrome de Netherton au sein d’une famille multiplex consanguine
A severe form of Netherton syndrome caused by a specific gene mutation led to neonatal deaths in a family.
research Detection of mutations in the CYP21A2 gene: genotype-phenotype correlation in Slovenian couples with conceiving problems
Genetic screening can help diagnose and manage infertility in Slovenian couples.
research Case report: A novel splice-site mutation of MTX2 gene caused mandibuloacral dysplasia progeroid syndrome: the first report from China and literature review
A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.