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660-690 / 1000+ resultsresearch Repurposing With Purpose: Treatment of Bachmann–Bupp Syndrome With Eflornithine and Implications for Other Polyaminopathies
Eflornithine improved symptoms in Bachmann–Bupp Syndrome patients.
research A frameshift mutation in the TRPS1 gene showing a mild phenotype of trichorhinophalangeal syndrome type 1
A small change in the TRPS1 gene leads to a less severe form of a syndrome affecting hair, nose, and finger development.
research Use of rotary echoes in 2 H magic-angle spinning NMR for the quantitative study of molecular dynamics
A new method accurately measures molecular movement without complex modeling.
research A Girl with a Novel Splice Site Mutation in <i>VDR</i> Supports the Role of a Ligand-Independent VDR Function on Hair Cycling
A mutation in the VDR gene affects hair cycling without needing ligand binding.
research Reply
research Vitamin D‐dependent rickets type I and type II
VDDR I and II are genetic disorders affecting vitamin D use, causing rickets, with VDDR I treatable by vitamin D supplements and VDDR II needing high doses and calcium.
research A Case of Tricho-rhino-phalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the TRPS1 Gene
A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.
research A role for steroid 5 alpha-reductase 1 in vascular remodeling during endometrial decidualization
The enzyme 5α-reductase type 1 is important for blood vessel development and fertility in the uterus.
research Birt–Hogg–Dubé syndrome: from gene discovery to molecularly targeted therapies
New therapies for Birt–Hogg–Dubé syndrome are being developed based on understanding the FLCN gene's role.
research 1370 MTORC1 activity is increased in the skin of acne patients and is suppressed with isotretinoin treatment
Acne patients have higher skin mTORC1 activity, which is reduced by isotretinoin treatment.
research TON1 recruiting motif 21 positively regulates the flavonoid metabolic pathway at the translational level in Arabidopsis thaliana
TRM21 helps control flavonoid production and root hair growth in Arabidopsis thaliana.
research Tratamiento ortobiológico con plasma rico en plaquetas. Revisión sistemática y clasificación de la evidencia
PRP treatment lacks strong evidence for routine use due to poor study quality.
research Treatment of Del(5q) Myelodysplastic Syndrome with All-Trans-Retinoic Acid and Tocopherol-α.
The treatment was not recommended due to limited effectiveness and significant side effects.
research The Androgen Receptor and Its Use in Biological Assays: Looking Toward Effect-Based Testing and Its Applications
Scientists have developed a new method to detect steroid abuse in athletes using cell-based tests, which could be the future of anti-doping methods.
research RETORNOS PERIÓDICOS EM PORTADORES DE PRÓTESES PARCIAIS FIXAS EM DENTES NATURAIS E IMPLANTES ÓSSEO INTEGRADOS
research Synthesis and biological activity of raltitrexed-carrier conjugates.
Raltitrexed conjugates are less potent than the free drug but more effective at high concentrations.
research Metabolic, Behavioral, and Reproductive Effects of Vertical Sleeve Gastrectomy in an Obese Rat Model of Polycystic Ovary Syndrome
Vertical sleeve gastrectomy improved metabolism, behavior, and reproduction in obese rats with PCOS.
research Pseudallescheria boydii infection associated with IgG4-related disease
research Synthesis, Biological Evaluation and in silico Studies of Novel 5α-aza-Bhomo-3,5-secosteroids as Potential 5-reductase Inhibitors
research A controlled study of the effects of RU58841, a non-steroidal antiandrogen, on human hair production by balding scalp grafts maintained on testosterone-conditioned nude mice
research 17-Hydroxyprogesterone Responses to Gonadotropin-Releasing Hormone Disclose Distinct Phenotypes of Functional Ovarian Hyperandrogenism and Polycystic Ovary Syndrome
The research found that polycystic ovary syndrome (PCOS) has two distinct types, with one having more severe hormone and insulin issues.
research Red Light Revolution: Harnessing Photobiomodulation for Peak Athletic Performance and Systemic Healing
Red light therapy can boost athletic performance and aid healing.
research Editorial
research Editorial
research Editorial
research An isotope dilution-liquid chromatography-tandem mass spectrometry-based candidate reference measurement procedure for the quantification of 5-alpha-dihydrotestosterone in human serum and plasma
The procedure accurately measures 5-alpha-dihydrotestosterone in blood, useful for standard tests.
research Expanding the Senior-Løken syndrome spectrum: Combined Rothmund-Thomson features unveil the distinct Teelwani Syndrome phenotype
A new syndrome, Teelwani Syndrome, combines features of two rare genetic disorders.
research Revising the role of the androgen receptor in breast cancer
The document concludes that targeting the androgen receptor may be a promising breast cancer treatment, especially for certain types.
research Effectiveness of QR678 and QR678 Neo ® with intralesional corticosteroid vs. intralesional corticosteroid alone in the treatment of alopecia areata –A randomized, comparative, prospective study
QR678 and QR678 Neo treatments, combined with corticosteroid injections, work better for alopecia areata than corticosteroid injections alone.