Search

everythingexperts & clinicslearnfaqsresearchcommunity

for

Search:↓

Congenital Adrenal Hyperplasia is mainly caused by enzyme deficiencies, leading to varying symptoms like hormone imbalances and physical changes.

This study observed that mice with a whole-body deficiency of Cystathionine-β-synthase developed severe hyperhomocysteinemia and related mild symptoms without increased mortality, indicating HHCy may not directly cause end organ damage.

In this study, researchers observed that overweight Taiwanese women with PCOS who carry the HSD3B1 1245C allele have a significantly higher risk of developing androgenic alopecia compared to those with the wild-type allele.

This study found that the collagen-binding fusion protein PTH-CBD significantly improved hair regrowth and follicle health in mice after chemotherapy, suggesting potential as a therapy for chemotherapy-induced alopecia.

This description of dystrophy hypotrichosis associated with juvenile macular dystrophy provides an overview of this rare disorder characterized by short hair from birth and progressive loss of central vision but reports no new findings.

This review discusses nonclassical 21-hydroxylase deficiency as the most common autosomal recessive disorder in humans and highlights the effectiveness of glucocorticoid treatment in reversing related symptoms.

This report describes a novel AR gene mutation in a female patient, contributing to androgen insensitivity syndrome, and emphasizes its potential impact on genetic counseling.

This paper discusses the introduction and advantages of an Insurance-Based Billing Model for scalp cooling devices in the USA, which can enhance access to this treatment for reducing chemotherapy-induced alopecia, particularly benefiting underserved and disadvantaged populations.

This study tested a novel cryo-carboxy dispensing device for treating androgenetic alopecia in six volunteers and found an unexpectedly rapid and positive response, with significant hair regrowth observed by day 90, prompting early conclusion of the trial.

This study found that the transcription factor CAP1 negatively regulates KRT83 expression in Tan sheep, possibly influencing their curly hair phenotype.

This research describes CG2001's promising safety profile and reduced systemic exposure as an alternative to finasteride, supporting its further development for androgenic alopecia treatment in future trials.

In this study, the authors used AI-driven methods to identify and prioritize promising therapeutic targets that may address both aging and Glioblastoma Multiforme, proposing CNGA3, GLUD1, and SIRT1 as novel candidates.

This study identified a specific SNP in the CACNB4 gene associated with a higher risk of chemotherapy-induced alopecia in breast cancer patients, which may help develop interventions to improve their quality of life.

This study identified genetic variants in the Trichohyalin gene that account for approximately 6% of the variance in hair morphology among Australians of European descent.

In this study, researchers reported that the SHBG +5790 G>A polymorphism was associated with an increased risk of developing resistance to hormonal castration in advanced prostate cancer patients.

This study identifies novel genetic variants in the NOTCH3 and HTRA1 genes associated with CADASIL and CARASIL, highlighting their potential in supporting clinical diagnosis and informing treatment strategies.

This study suggests that passage number significantly affects in silico scratch assay results, highlighting the importance of reporting passage number for reproducibility in cell culture experiments.

In this study, researchers identified a recurrent MBTPS2 splice-site variant as a mutational hotspot in IFAP syndrome across diverse families, with phenotype severity suggesting the influence of additional modifiers.

In this study, scalp cooling therapy was found to be well tolerated and effective at improving hair preservation for Asian women with breast or gynecological cancers undergoing certain chemotherapy regimens, particularly weekly paclitaxel, compared to historical controls.

This study found that a 22-bp InDel polymorphism in the FGF7 gene was significantly associated with growth traits in goats, with genotypes ID and/or II linked to better growth compared to genotype DD, indicating its potential as a molecular marker in breeding programs.

In this case report, a 20-year-old male with tricho-rhino-phalangeal syndrome was found to have a de novo frameshift mutation in the TRPS1 gene, highlighting the challenges in diagnosing this rare disorder.

This review covers cross-sex hormone therapy for gender dysphoria, noting improvements in psychological symptoms and quality of life but lacking definitive long-term safety data.

This study found that in early retinal neurogenesis in mice, the transcription factor Lhx2 regulates Sonic Hedgehog signaling by controlling expression of pathway genes like the co-receptors Gas1 and Cdon.

This study demonstrates that the CRISPR-Cas9 system can be used to successfully edit genes in large mammals, such as Cashmere goats, creating a valuable model for research on EDAR gene-related phenotypes.

This case report describes a 33-year-old Kashmiri woman with Woodhouse-Sakati syndrome who has a rare DCAF17 gene mutation, c.321+1G>A, providing further evidence for its role in the genetic basis of this neuroendocrine disorder.

This study found that topical BPM31543 was safe, tolerable, and showed potential to reduce chemotherapy-induced alopecia at higher dosing levels among adult women with cancer receiving taxane-based chemotherapy.

In this study, in ovo injection of CHIR-99021 promoted the morphogenesis and development of feather follicles in chick embryos by activating the Wnt/β-catenin signaling pathway.

This study found that supplementing pregnant and lactating mice with high dietary copper improved survival and physical traits in mice carrying the crinkled mutation, suggesting copper's role in modulating gene expression.

This study suggests that alkaline phosphatase-regulated expression of CCL5 contributes to the trichogenicity of human dermal papilla spheres.

This article discusses the potential benefits of GcMAF and oral MAF, developed by "Saisei Mirai", for cancer and other conditions, but reports no new clinical results.