research Exploring the clinical implications of novel SRD5A2 variants in 46,XY disorders of sex development
New SRD5A2 variants may disrupt protein function, aiding diagnosis and treatment of related disorders.
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research A case of MBTPS1 ‐related disorder due to compound heterozygous variants in MBTPS1 gene: Genotype–phenotype expansion and the emergence of a novel syndrome
A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.
research Common Variants in the Trichohyalin Gene Are Associated with Straight Hair in Europeans
Common variants in the Trichohyalin gene are linked to straight hair in Europeans.
research Propecia-induced spermatogenic failure: a report of two cases
Stopping finasteride improved sperm counts in two men, reducing the need for fertility treatments.
research Fertility evaluation of infertile women: a committee opinion
The conclusion is that women under 35 should start fertility checks after 12 months of trying to conceive, women over 35 after 6 months, and women over 40 should start immediately. The checks should include ovulation status, reproductive tract structure, and male partner's semen evaluation.
research Venus trap in the mouse embryo reveals distinct molecular dynamics underlying specification of first embryonic lineages
Tmem50b and 2610305D13Rik genes play key roles in early mouse embryo development.
research An early diagnosis of trichorhinophalangeal syndrome type 1: a case report and a review of literature
Early diagnosis of Trichorhinophalangeal syndrome type 1 is crucial for treatment and was achieved through clinical examination and family history.
research A rare LMNA missense mutation causing a severe phenotype of mandibuloacral dysplasia type A: a case report
A rare genetic mutation caused severe symptoms in a 6-year-old girl with mandibuloacral dysplasia type A.
research Dermatologic care of patients with differences of sex development
Dermatologists are crucial in providing personalized care for patients with sex development differences.
research Identification of a Rare Variant in the SRD5A2 Gene in Siblings With 46,XY Disorders of Sexual Development
A rare gene variant causes sexual development issues in siblings, needing personalized treatment.
research Dihydrotestosterone induces arterial stiffening in female mice
Dihydrotestosterone makes arteries stiffer in female mice by reducing estrogen receptor expression.
research TRANSMEDCON 2022: E-Poster Abstracts
Platelet-rich plasma helps treat hair loss, and better screening improves transfusion safety.
research Trichothiodystrophy in a child with occult learning disorder
Early diagnosis and a multidisciplinary approach are crucial for children with Trichothiodystrophy and hidden learning disorders.
research Wokeness in Our Practice
Dermatologists should address discrimination and consider ethnic and gender differences in treatments.
research Concise Review: Human Dermis as an Autologous Source of Stem Cells for Tissue Engineering and Regenerative Medicine
Human skin can provide stem cells for tissue repair and regeneration, but there are challenges in obtaining and growing these cells safely.
research Hair follicle-derived mesenchymal cells support undifferentiated growth of embryonic stem cells
Hair follicle cells can help keep embryonic stem cells undifferentiated.
research Association of Acne Tarda with Endocrinological Disorders
Adult acne is often related to hormonal disorders, especially in women, and may need long-term treatment involving specialists.
research Functionally enhanced placenta-derived mesenchymal stem cells inhibit adipogenesis in orbital fibroblasts with Graves’ ophthalmopathy
Enhanced stem cells from the placenta can help treat Graves' eye disease by stopping fat cell growth.
research Ovine Hair Follicle Stem Cells Derived from Single Vibrissae Reconstitute Haired Skin
Ovine hair follicle stem cells can regenerate haired skin and may improve wool production.
research Induced pluripotent stem cells: Generation methods and a new perspective in COVID-19 research
iPSCs are promising for studying and treating COVID-19.
research Use of Induced Pluripotent Stem Cells in Dermatological Research
iPSCs can help treat genetic skin disorders by creating healthy skin cells from a small biopsy.
research Small Molecule Treatments Improve Differentiation Potential of Human Amniotic Fluid Stem Cells
Small molecule treatments improve the ability of human amniotic fluid stem cells to become different cell types.
research TTNPB Promotes Human Pluripotent Stem Cell‐to‐Neural Stem Cell Transition via Modulation of Chromatin Accessibility and the S‐(5′‐adenosyl)‐L‐homocysteine/Choline Metabolic Network
TTNPB helps turn stem cells into neural stem cells, improving depression-like behaviors in rats.
research A Mouse Model for the Basal Transcription/DNA Repair Syndrome Trichothiodystrophy
Researchers created a mouse with the same mutation as humans with trichothiodystrophy, showing similar symptoms and confirming the condition is due to defects in DNA repair and gene activity.
research A Novel Connexin 26 Mutation in a Patient Diagnosed with Keratitis–Ichthyosis–Deafness Syndrome
A new mutation in the Connexin 26 gene was found in a patient with KID syndrome, expanding the known disorders linked to this gene.
research Organoid technology for tissue engineering
Organoid technology helps create mini-organs for studying diseases and testing drugs.
research Haplotypes spanning centromeric regions reveal persistence of large blocks of archaic DNA
Ancient DNA blocks are still present in human genomes, possibly due to advantages they provide.
research Pharmacological Efficacy of Tamarix aphylla: A Comprehensive Review
Tamarix aphylla may be effective for various medical conditions, but more research is needed to confirm its safety and effectiveness.
research Research Relevant Conditions and Pathology in Nonhuman Primates
Nonhuman primates are valuable in research but their natural health variations can complicate study results.
research Loss of the Y Chromosome: A Review of Molecular Mechanisms, Age Inference, and Implications for Men’s Health
Loss of the Y chromosome in men is linked to health issues like heart disease and cancer.