research Decision letter: The molecular basis for ANE syndrome revealed by the large ribosomal subunit processome interactome
ANE syndrome is caused by a mutation in the RBM28 protein that disrupts ribosome assembly.
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690-720 / 1000+ resultsresearch Keratin 17 mutations cause either steatocystoma multiplex or pachyonychia congenita type 2
Keratin 17 gene mutations cause both steatocystoma multiplex and pachyonychia congenita type 2.
research Inhibition of Cholesterol Biosynthesis Modulates Epithelial-Mesenchymal Transition in Primary Cicatricial Alopecia Through TGFβ and Angiotensin Receptors
Blocking cholesterol production may help control hair loss in Primary Cicatricial Alopecia by affecting key regulators.
research New plaque protein identified in brains of people with Alzheimer's disease
Scientists found a new protein, AMY117, common in Alzheimer's patients, which could be important for treatment and diagnosis.
research Hepatocyte growth factor combined with adenosine deaminase as biomarker for diagnosis of tuberculous pleural effusion
HGF combined with ADA is highly accurate for diagnosing tuberculous pleural effusion, especially in younger females.
research Comparison of Efficacy and Specificity in Cancer‐Targeting Prodrug Conjugates
The document concludes that biotin, folate, and RGD peptides are promising for targeting cancer cells with prodrugs, but the conjugates are not yet tested for use.
research [Clinical findings with a low-dosed antiandrogene (cyproteronacetate) and aethinyloestradiol women with virilising symptoms (author's transl)].
The treatment improved acne, seborrhoea, and hirsutism, with some side effects like spotting and nervousness.
research Isolation and Characterization of Mouse High-glycine/Tyrosine Proteins
Mouse high-glycine/tyrosine proteins have distinct patterns in hair follicles, peaking at specific hair cycle days.
research Suppression of uterine and placental ferroptosis by N-acetylcysteine in a rat model of polycystic ovary syndrome
N-acetylcysteine may help treat uterine and placental issues in PCOS.
research Common variants in the sex hormone-binding globulin gene (SHBG) and polycystic ovary syndrome (PCOS) in Mediterranean women
Certain genetic variations in the SHBG gene are linked to an increased or decreased risk of PCOS in Mediterranean women.
research Bald thigh syndrome in sighthounds—Revisiting the cause of a well-known disease
Bald thigh syndrome in sighthounds is caused by structural defects in hair shafts due to downregulated genes and proteins.
research Clinical Case Notes. Retinoblastoma, microphthalmia and the chromosome 13q deletion syndrome
The document concludes that careful diagnosis is crucial for chromosome 13q deletion syndrome, tamoxifen can cause reversible eye damage, finasteride may be linked to cataracts, and OCT is useful for diagnosing macular diseases.
research Faculty Opinions recommendation of Finasteride inhibits the disease-modifying activity of progesterone in the hippocampus kindling model of epileptogenesis.
research Increased PHGDH expression promotes aberrant melanin accumulation
Higher PHGDH levels cause unusual melanin buildup in hair follicles.
research Candidate SNP markers of reproductive potential are predicted by a significant change in the affinity of TATA-binding protein for human gene promoters
Certain genetic markers linked to reproductive potential were identified by their impact on a protein's ability to bind to genes.
research 1379 Cyclosporin A suppresses TGF-β2 expression via calcineurin/NFAT pathway in human dermal papilla cells
Cyclosporin A, a drug, reduces TGF-β2 expression in skin cells, potentially causing excessive hair growth through a process involving the calcineurin/NFAT pathway.
research Nevoid basal carcinoma syndrome (Gorlin syndrome) and pronounced androgenic alopecia in a woman with a novel mutation p.Leu1159fsx32 in the PTCH gene
A woman with a new PTCH gene mutation has both Gorlin syndrome and severe hair loss.
research 474 Stabilizing mutations of KLHL24 ubiquitin ligase cause loss of keratin 14 and human skin fragility
Certain mutations in the KLHL24 gene cause a skin disorder by breaking down an important skin protein.
research Critical Analysis on Characterization, Systemic Effect, and Therapeutic Potential of Beta-Sitosterol: A Plant-Derived Orphan Phytosterol
Beta-sitosterol has potential health benefits but needs more research to fully understand its effects and improve its use in treatments.
research C2orf37 mutational spectrum in Woodhouse–Sakati syndrome patients
Truncating mutations in the C2orf37 gene cause Woodhouse–Sakati syndrome.
research THE PATTERN OF SILVER-RUSSELL SYNDROME: OWN OBSERVATION
A multidisciplinary approach is crucial for managing Silver-Russell syndrome effectively.
research Cystine-thiamin-containing hair-growth formulation modulates the response to UV radiation in an in vitro model for growth-limiting conditions of human keratinocytes
A hair-growth formula with cystine and thiamin helps protect skin cells against UV damage and improves their growth.
research Hepato- and neuro-toxicity by ethylenthiourea.
Ethylenthiourea is toxic to the liver and nervous system, especially with alcohol.
research Widespread erythematous scaly eruption in an infant with phenylketonuria
Restoring phenylalanine levels improved skin and hair symptoms in a PKU infant.
research Gene and tonic: Sonic hedgehog disruption and fetal alcohol syndrome
research Clinical-exome sequencing unveils the genetic landscape of polycystic ovarian syndrome (PCOS) focusing on lean and obese phenotypes: implications for cost-effective diagnosis and personalized treatment
Early diagnosis and personalized treatment for PCOS are crucial, especially for young women in West Bengal, India.
research Post-Drug Syndromes: A Neglected Challenge in Pharmacovigilance and Public Health
Current drug safety systems fail to detect long-term side effects, needing improvements to protect health and trust.
research Autophagy protects murine preputial glands against premature aging, and controls their sebum phospholipid and pheromone profile
Autophagy helps delay aging in mouse glands, maintains fat balance, and controls scent production.
research Cytochrome P450: A Target for Drug Development for Skin Diseases
Modulating Cytochrome P450 activity could help develop new skin disease treatments.
research Mechanism of Hair Curling via Laccase-Assisted Tyrosine Grafting Using BSA as a Model Protein
A gentler, less damaging method for curling hair using tyrosine works well initially but fades after washing.