Search

everythingexperts & clinicslearnfaqsresearchcommunity

for

Search:↓

This study reported that the NUDT15 R139C genetic variant was significantly associated with thiopurine-induced leukocytopenia in Japanese inflammatory bowel disease patients, independent of 6-thioguanine nucleotide levels.

This review highlights the potential of PROTACs to transform cancer treatment by selectively degrading oncogenic proteins, overcoming drug resistance, and reducing toxicity; it also discusses challenges in optimizing these therapies for personalized applications.

In this study, researchers using QM/MM simulations identified key molecular motions and residue interactions in the enzyme SRD5A2 that significantly influence its catalytic efficiency, demonstrating that specific residues play critical roles in stabilizing transition states and reducing activation barriers.

This study found that elevated tissue RBP4 levels correlate with disease severity in alopecia areata and decrease after effective baricitinib treatment, while the rs3758539 polymorphism is linked to disease susceptibility but not to treatment response.

In this study, researchers identified a novel KRT74 gene mutation associated with autosomal recessive pure hair and nail ectodermal dysplasia in a Pakistani family, expanding the known genetic causes of the disorder.

This observational study reviewed thyroid eye disease patients treated with teprotumumab at one center, reporting common side effects like fatigue and dry eye symptoms, with serious adverse events including two cases of blood clots and one pulmonary embolism.

This study identifies iRhom2 as a crucial regulator of hair follicle differentiation, showing that the iRhom2Uncv mutation leads to dysplasia and reduced TACE maturation, resulting in a hairless phenotype in mice.

This study found that a specific T-cell receptor motif associated with lipid-antigen stimulation may play a role in the pathogenesis of folliculotropic mycosis fungoides.

This study found that TRF1 plays a crucial role in maintaining pluripotency and stem cell compartments, but it is not a suitable in vivo telomere length marker.

This study identified two distinct VDR gene mutations among Lebanese families with hereditary vitamin D-resistant rickets, noting varied treatment responses and promising outcomes despite severe phenotypes.

In this report, a preterm neonate was found to have total irreversible hair loss due to congenital atrichia, confirmed by a mutation in the human hairless gene on chromosome 8p22, illustrating this rare autosomal recessive disorder.

This study found that in a transgenic mouse model, a modified form of β-catenin inhibited normal hair follicle development and promoted epidermal cyst formation, revealing distinct effects on Wnt signaling.

This study found that selective inactivation of ribonucleotide excision repair in mouse epidermis led to spontaneous DNA damage, skin inflammation, and the development of squamous cell carcinoma, suggesting potential implications for cancer development in humans.

This study found that among Indian rheumatoid arthritis patients, the MTHFR A1298C polymorphism was associated with varying responses to methotrexate, with 1298CC genotypes showing higher toxicity and poorer efficacy compared to 1298AA genotypes.

This study observed that in human scalp hair follicles, BTNL2 expression is lower in stressed conditions, which correlates with increased cytotoxic activity by gamma/delta and CD8+ T cells, suggesting a possible role for BTNL2 in controlling immune responses relevant to alopecia areata.

In this case report, half-siblings with bullous congenital ichthyosiform erythroderma were found to have a susceptibility to Trichophyton rubrum infection, successfully treated with oral terbinafine.

This study found that mutant glucocorticoid receptors have defective transcriptional activity and dynamic motility issues in the nucleus, likely due to impaired interactions with nuclear molecules necessary for gene activation.

This study found that transgenic mice expressing a mutant E1a oncoprotein in their skin had disturbed hair follicle maturation but did not show increased tumor development or proliferation.

This study found that Epstein-Barr virus infection upregulated a truncated variant of human basic hair keratin 1 (hHb1-ΔN) in gastric carcinoma cell lines, suggesting a possible link to carcinoma differentiation.

This study found that a specific gene mutation was identified in a family with monilethrix, and treatment with 5% minoxidil liniment improved hair quality in the proband without adverse events.

A woman's unique dementia was misdiagnosed, a genetic mutation increases Parkinson's risk with age, and finasteride may help with Tourette syndrome.

This study reports the discovery of mutations in the PADI3, TGM3, and TCHH genes as molecular genetic causes of uncombable hair syndrome in children, indicating an autosomal-recessive inheritance pattern.

This study identified a novel E413K mutation in the hHb6 gene in a Chinese Han family with monilethrix, potentially linked to the characteristic moniliform hair structure.

This study suggests that abnormal hair cycles in Hr mutant mice may be caused by HR protein overexpression, which down-regulates miR-31 and increases Tgf-β2 expression.

This study observed that deleting PTEN in mouse facial motoneurons enhanced peripheral axon regeneration but also led to physiological changes and potential hyperplasia in older mice.

Some people have a genetic variation that makes them less effective at breaking down drugs.

A specific mutation in PA-PLA1α causes abnormal hair growth.