Search

everythingexperts & clinicslearnfaqsresearchcommunity

for

Search:↓

This study identified the Arabidopsis cation chloride cotransporter CCC1 as essential for regulating pH and function in the trans-Golgi network/early endosome, with its absence causing significant growth and stress response defects.

This study found that L-type channel blockers can induce hair growth in Timothy syndrome by overcoming delays in anagen phase, suggesting a potential therapeutic role for tissue regeneration.

This case report describes a 3-year-old boy with trichothiodystrophy, highlighting specific MRI findings of diffuse dysmyelination and osteosclerosis that may be unique to the disorder.

This case report describes the first successful use of telitacicept in treating a patient with systemic lupus erythematosus and a history of papillary thyroid carcinoma, suggesting its potential as a therapeutic option for such conditions.

This study found that pulsed diode laser treatment safely and effectively cleared lesions and reduced the appearance of dark plugs in trichostasis spinulosa for up to 20 weeks in dark-skinned individuals.

This case study describes a 15-year-old girl with a Sertoli–Leydig cell tumor who showed high androgen levels and steroidogenic responses similar to patients with polycystic ovary syndrome before surgery.

This study investigated dual TCR Treg cells in mouse tissues, revealing a high proportion and diverse pairing patterns compared to single TCR Tregs, providing insights into their origins and characteristics across different tissue locations.

This study found that the tetracycline-regulated transcription system effectively controls conditional gene expression in the mouse epidermis, allowing suppression and activation of specific genes with doxycycline.

This study developed a sensor that effectively measures Tl+ cation in solutions with a wide dynamic range and low detection limit, responding linearly within the concentration range 1.0 × 10−8 to 1.0 × 10−1M.

This conference proceedings compilation from Prague covers global trends, problems, and solutions in science, engineering, and technology, but reports no new clinical results.

This study identified a high-risk allele in the PLCD1 gene associated with hereditary trichilemmal cyst formation, proposing a monoallelic two-hit mechanism as the underlying genetic pathogenesis.

This study provides an analysis of global publications on TLS, offering insights into the role of TLS in immunotherapy and suggesting future research directions.

This review discusses the development and potential therapeutic applications of steroid sulfatase inhibitors for hormone-dependent disorders and cognitive dysfunction, reporting no new clinical results.

This case report describes two patients with trichothiodystrophy who exhibited a different pattern of hair protein composition changes, suggesting a subgroup of TTD characterized by partial loss of high-sulfur proteins without significant alteration in their amino acid composition.

In this study, researchers identified a novel STS gene (c.287G > A; p.W96*) mutation in Pakistani individuals with X-linked ichthyosis, expanding the understanding of its genetic causes and aiding in genetic counseling.

This study found that overexpression of the transcription factor Tcf3 accelerates keratinocyte migration and skin wound healing in mice, highlighting its potential as a therapeutic target for wound repair.

In this study, conditional inactivation of the Mad2l1 SAC gene in mice led to aggressive and lethal acute lymphoblastic leukemia and hepatocellular carcinoma, demonstrating a link between chromosomal instability and cancer development.

This phase 1 study reported that after administering supratherapeutic doses of cortexolone 17α‐propionate, a topical antiandrogen intended for hair loss treatment, there was no effect on the QTc interval, indicating no measurable cardiac safety concerns in the concentration range tested.

This study proposed that the tiger tail phenomenon in trichothiodystrophy hair is caused by regular undulations of hair fibers, altering the optical properties seen under polarized light.

Human enzymes can detoxify harmful substances but might also increase their cancer risk.

This study demonstrated that 5-azacytidine treatment may reduce TSC lesion-related hair follicles in mice, suggesting chromatin remodeling agents could be effective for tuberous sclerosis cutaneous lesions lacking tuberin.

This case report describes a non-mosaic Turner-Syndrome individual with global cerebral atrophy, significant cognitive impairment, and severe treatment-resistant schizophrenia.

In this review, researchers summarize the methods for characterizing telocytes, outline their physiological roles and implications in diseases, and discuss potential future studies including precise markers and targeted therapies.

This study found that deleting Stim1 and Stim2 in mature T regulatory cells disrupts Ca 2+ signaling, preventing their differentiation and leading to severe autoimmune disorders in mice.

This study reports a unique case of coinheritance of BRCA2 and CYLD pathogenic variants in a man with metastatic malignant cylindroma, suggesting that recognizing such genetic profiles in rare conditions can provide new treatment options, including the potential use of therapies targeting BRCA deficiency.

This article discusses Trikostazis spinuloza (TS), a dermatological condition often misdiagnosed, and reviews its demographic, clinical, and dermoscopic features, but reports no new clinical results.

CTP-543 is generally safe for treating alopecia areata.

This study suggests that the NCSTN knockout mouse could serve as an HS animal model, with tamoxifen potentially used for gene deletion in mice.

This study observed that female patients with chronic telogen effluvium had significantly lower levels of total thiol, thiol-disulphide, and disulphide compared to healthy controls, indicating a disruption in oxidative stress balance.