research GRANULOSA‐THECA CELL TUMOR IN A ONE‐YEAR‐OLD INFANT
A rare ovarian tumor caused early puberty signs in a 1-year-old girl, but surgery reduced hormone levels.
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750-780 / 1000+ resultsresearch Overexpression of spermidine/spermine N1-acetyltransferase under the control of mouse metallothionein I promoter in transgenic mice: evidence for a striking post-transcriptional regulation of transgene expression by a polyamine analogue
Overexpressing SSAT in mice makes them highly sensitive to polyamine analogues, causing liver damage and high mortality.
research Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome
Mutations in three genes cause Uncombable Hair Syndrome, leading to frizzy hair that can't be combed flat.
research Early onset and novel features in a spinal and bulbar muscular atrophy patient with a 68 CAG repeat
A patient with a larger than usual genetic mutation had a broader range of symptoms for a muscle disease.
research Androgenetic alopecia in a postmenopausal woman as a result of ovarian hyperthecosis
Hair loss in postmenopausal woman caused by ovarian issue.
research A Teenage Girl with Unexpected Pubertal Changes
The girl's unexpected pubic hair growth led to a diagnosis different from complete androgen insensitivity syndrome.
research Infertility in PCOD
Most women with Polycystic Ovarian Disease have trouble getting pregnant due to hormonal imbalances, but lifestyle changes and certain drugs can help.
research 547 CDK9 Kinase Activation in Association with AFF1-SEC Initiate Epidermal Progenitor differentiation
NCSTN gene mutation causes abnormal skin cell differentiation and more inflammation, contributing to Hidradenitis Suppurativa.
research Decision letter: Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression
MFN2 mutations cause mitochondrial problems, unusual fat distribution, and low leptin despite high body fat.
research The prevalence of androgen excess among patients with minimal unwanted hair growth
research Safety concerns of paternal drug exposure on fertility, pregnancy and offspring: An analysis based on the FDA adverse event reporting system
Paternal drug exposure can harm fertility, pregnancy outcomes, and offspring health, with specific drugs linked to various reproductive issues.
research Clinical and molecular genetic studies in hereditary hair loss
Researchers found a genetic link for hereditary hair loss but need more analysis to identify the exact gene.
research Allopregnanolone (AP) induces opioid inhibition of hypothalamo-pituitary-adrenal (HPA) axis responses to interleukin-1β (IL-1β) in pregnancy
Allopregnanolone and opioids together reduce stress hormone responses during pregnancy.
research KERATIN 17-related recessive atypical pachyonychia congenita with variable hair and tooth anomalies
A new type of pachyonychia congenita linked to a specific keratin gene mutation was found in two Pakistani families.
research Concerted gene duplications in the two keratin gene families
research ADAM17 variant causes hair loss via ubiquitin ligase TRIM47 mediated degradation
A variant in the ADAM17 gene causes hair loss by increasing protein degradation through TRIM47.
research Autosomal recessive pure hair and nail ectodermal dysplasia linked to chromosome 12p11.1-q14.3 without KRTHB5 gene mutation
The condition is linked to chromosome 12, but no mutations were found in the known genes.
research Case Report: A case of Rothmund–Thomson syndrome-like phenotype with an ANAPC1 variant of uncertain significance and observed hair improvement
The patient's hair improved after treatment, but the genetic link is unclear.
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 5116 Postmenopausal Hyperandrogenism due to Rare Ovarian Tumor
Rare ovarian tumors can cause hyperandrogenism, even if imaging appears normal.
research Activated Polyamine Catabolism Depletes Acetyl-CoA Pools and Suppresses Prostate Tumor Growth in TRAMP Mice
Overexpressing SSAT enzyme reduces prostate tumor growth in mice.
research BG01 Confirming small nuclear ribonucleoprotein polypeptide E as a cause of nonsyndromic hypotrichosis
The protein called small nuclear ribonucleoprotein polypeptide E is identified as a cause of a type of hair loss without other symptoms.
research 유전성 안드로겐탈모증의 임상적 고찰(제6보)
Androgenetic alopecia is more common in men, linked to genetics and androgen levels, but routine pelvic ultrasound isn't recommended.
research Beyond the Matrix: A Rare Case of Pilomatrix Carcinoma with Histologic Insights
Accurate diagnosis of rare pilomatrix carcinoma is crucial for effective treatment.
research Current Genetics in Hair Diseases
Genetic mutations cause various hair diseases, and whole genome sequencing may reveal more about these conditions.
research The structure of hair and follicles of mice carrying the naked (N) gene
Mice with the naked gene have missing or abnormal hair cells.
research Insertional mutation of the hairless locus on mouse Chromosome 14
A gene mutation in mice causes permanent hair loss and skin issues.
research Androgen Action in the Ovary
Androgens are important for normal ovarian function and estrogen production, but may not be the main cause of follicle death.
research Molecular mechanisms of Y chromosome loss and UTY gene activity
Loss of the Y chromosome and UTY gene activity increases cancer risk in men.
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.