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.

In these two clinical trials, DS-2325a, a KLK5 inhibitor, was found to be generally safe and well tolerated in healthy volunteers, with mild and non-serious adverse events, suggesting its potential for further development as a treatment for Netherton Syndrome.

This study reported a series of eight children with hereditary vitamin D-resistant rickets in Tunisia, identifying both common and novel mutations in the vitamin D receptor gene, and noting significant improvement with intravenous calcium treatment in most patients.

A specific hair protein variant increases the spread of breast cancer and is linked to worse survival rates.

This case report describes a Thai male with TRPS1 who exhibited unique and unreported features such as hypoplastic mandibular condyles, double mental foramina, and distinctive hair abnormalities.

An intact skin barrier is crucial to prevent infection in cases of tether-induced tenosynovitis.

This study found significant variation in tissue mutant load in individuals with the T8993G mutation, which complicates genetic counseling and may inform genotype-phenotype correlations, especially using hair bulb mtDNA analysis.

This study identified a 14,883 bp genomic deletion affecting the Plcd1 and Vill genes as likely responsible for the abnormal phenotype observed in snthr-1Bao mice.

This study illustrates the severe neonatal clinical presentation of Netherton syndrome, which can be fatal despite intensive care, highlighting a specific homozygous mutation (c.1431-12G > A) associated with lethal cases.

This phase I study reported that ETC-159, targeting Wnt signalling, showed tolerable safety profiles at doses that inhibit its pathway, though bone turnover markers increased, warranting early and regular monitoring. No tumor responses were observed, but two patients achieved stable disease for several cycles.

This case report identifies a novel nonsense mutation in the CDH3 gene associated with hypotrichosis and juvenile macular dystrophy.

This study found that among Japanese IBD patients, the NUDT15 p.Arg139Cys variant was significantly associated with thiopurine-induced leukopenia and severe hair loss, suggesting its genotyping is important for predicting these adverse events.

This abstract discusses two types of hereditary vitamin D metabolism defects, VDDR I and VDDR II, and reports on their distinct characteristics and treatment responses, without presenting new clinical data.

This case report identifies a 23-year-old man with congenital triangular alopecia, a non-scarring alopecia characterized by preserved follicles and vellus hair, for which unnecessary interventions should be avoided.

This article discusses temporal triangular alopecia, emphasizing the need for increased awareness to prevent misdiagnosis and ineffective treatment, but reports no new clinical results.

This review discusses the role of the TCL1 transgenic mouse model in understanding chronic lymphocytic leukemia biology and highlights the importance of exploring new pathogenetic and therapeutic targets.

In this case-control study, researchers did not find genome-wide significant genetic variants for trichotillomania, but cases had higher polygenic risk for psychiatric disorders and certain neuropsychiatric-associated copy number variants.

This study found that systemic treatment with DS77754007, a KLK5 inhibitor, improved skin symptoms in a mouse model of Netherton Syndrome more effectively than certain antibody treatments, suggesting KLK5 inhibition as a promising therapeutic approach for this condition.

This study observed that temporal triangular alopecia in infants presents with distinct clinical and dermatoscopic features, indicating the usefulness of dermatoscopy for diagnosis and differential diagnosis.

This case report describes a girl in China with biotinidase deficiency confirmed by genetic mutations, whose skin and hair symptoms improved with biotin therapy.

This study found that the combination of TTNPB and CHIR99021 enhanced the derivation of highly advanced neural stem cells from human pluripotent stem cells, with improved chromatin accessibility and neuroectodermal gene expression, and these cells successfully engrafted in rat hippocampi to ameliorate depression-like symptoms.

This study found that HtrA2 inactivation in mnd2 mice is associated with delayed hair cycle phases and growth retardation of adipocytes, suggesting HtrA2's role in regulating adipogenesis-related hair growth.

In this study, deep phenotyping of 68 patients with XPD gene defects successfully separated individuals by clinical diagnosis and survival status, potentially improving diagnosis and prognosis for xeroderma pigmentosum and trichothiodystrophy.

This study found a novel nonsynonymous genetic variant in the hHb1 gene of a family with monilethrix, which differs from ten previously reported pathogenic mutations.

This report describes a case of acquired trichorrhexis nodosa in a woman with severe iron deficiency anemia, highlighting a possible link between the two conditions.

Temporal triangular alopecia is a non-scarring hair loss seen in some Asian children.

This case report describes a 3-year-old boy diagnosed with temporal triangular alopecia, emphasizing the importance of clinical and dermoscopic examination for correct diagnosis due to the condition's rarity and risk of misdiagnosis.

This study identified a novel I268T mutation in the vitamin D receptor that reduces its function, contributing to hereditary vitamin D-resistant rickets, and found that a potent vitamin D analog could improve receptor function.

This study found that applying topical thymidine dinucleotide (pTT) to newborn mice before UV exposure delayed and reduced melanoma development compared to untreated controls.