research Case Report: Bi-Allelic Missense Variant in the Desmocollin 3 Gene Causes Hypotrichosis and Recurrent Skin Vesicles
A new genetic change in the DSC3 gene is linked to a rare condition causing hair loss and skin blisters in a child.
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research Development of a Non-Parametric Population Pharmacokinetics Model and Bayesian Estimator for Tacrolimus in Tunisian Renal Transplant Patients
The model and estimator can predict drug exposure in kidney transplant patients well.
research Delayed Puberty: Diagnosis and Management of Congenital Idiopathic Hypogonadotropic Hypogonadism
A 19-year-old male with delayed puberty was successfully treated for a condition that prevents normal hormone production.
research Higher Androgen and Estrogen Output and Less Follicular Atresia Can Be Induced in Healthy Ovaries by Culturing Them with Sera from PCOS Patients: Is PCOS Really of Intraovarian Origin?
PCOS may be influenced by factors in the blood, not just the ovaries.
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 EGFR Controls Hair Shaft Differentiation in a p53-Independent Manner
EGFR helps control how hair grows and forms without needing p53 protein.
research Epigenetics of Colorectal Cancer
Colorectal cancer development involves both genetic changes and epigenetic alterations like DNA methylation and microRNA changes.
research Reconsideration of Guidelines for Metformin Use in Ovulation Induction for PCOS by ESHRE and ASRM
New information suggests that metformin might help more women with PCOS and infertility, not just those with glucose issues.
research From Structural Resilience to Cell Specification: Intermediate Filaments as Regulators of Cell Fate
Intermediate filaments are crucial for cell differentiation and stem cell function.
research Presence of Uterine Leiomyomas Has No Significant Impact on Gene Expression Profile in the Scalp of Patients with Central Centrifugal Cicatricial Alopecia
Uterine leiomyomas don't significantly change gene expression in the scalp of people with Central Centrifugal Cicatricial Alopecia.
research Cantú Syndrome Is Caused by Mutations in ABCC9
Cantú syndrome is caused by mutations in the ABCC9 gene.
research Pathology of Mouse Models of Accelerated Aging
Progeroid mouse models show signs of early aging similar to humans, helping us understand aging better.
research Fetal Alpha 5-Reductase Val89Leu Mutation Is Associated With Late Miscarriage
A certain mutation in the fetal alpha 5-reductase gene is linked to a higher risk of late miscarriage.
research Polycystic Ovary Syndrome Phenotypes and Infertility Treatment
Different PCOS types respond uniquely to infertility treatments, with some having lower pregnancy rates and higher risks of complications.
research Analysis of 72,469 UK Biobank Exomes Links Rare Variants to Male-Pattern Hair Loss
Rare genetic variants in five specific genes are linked to male-pattern hair loss but only account for a small part of the risk.
research Insight into the Pathogenesis of Polycystic Ovarian Syndrome
The document's conclusion cannot be provided because the document is not accessible or understandable.
research Coats' Plus: A Progressive Familial Syndrome of Bilateral Coats' Disease, Characteristic Cerebral Calcification, Leukoencephalopathy, Slow Pre- and Post-Natal Linear Growth, and Defects of Bone Marrow and Integument
Coats' Plus is a genetic disorder with eye abnormalities, brain calcification, poor growth, bone and skin issues, and movement disorders.
research Acromegaloidism With Normal Growth Hormone Secretion Associated With X-Tetrasomy
A woman with acromegaloidism and normal growth hormone levels had a rare X-Tetrasomy, suggesting a need to study X-chromosome genes for their role in growth and facial development.
research Correlation Between Biochemical and Clinical Hyperandrogenism Parameters in Polycystic Ovary Syndrome in Relation to Age
The link between physical signs of high male hormones and hormone levels in women with PCOS changes with age.
research Updates to Male Infertility: AUA/ASRM Guideline 2024
The 2024 guideline updates recommendations for genetic testing, imaging, and sperm retrieval in male infertility.
research 5α-Reductase Inhibitors and Male Reproduction
5α-Reductase inhibitors can negatively affect male sexual function and, in some cases, significantly reduce sperm count, but these effects may be reversible.
research Pregnancy Outcomes with Paternal Exposure to Finasteride, a Synthetic 5-Alpha-Reductase Inhibitor: A Case Series
Babies were mostly born healthy from fathers who took finasteride, but some pregnancies ended early; more research is needed.
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 Reshaped DNA Methylation Cooperating with Homoeolog-Divergent Expression Promotes Improved Root Traits in Synthesized Tetraploid Wheat
DNA changes in tetraploid wheat improve root growth and nitrogen use.