Search

everythingexperts & clinicslearnfaqsresearchcommunity

for

Search:↓

In this study, the researchers developed a quantum algorithm, QuantAnts machines, which identified complexes of CD9, CD34, and CD74 as potential targets for certain cancers involving the RAS pathway.

A woman with a specific mutation causing adrenal gland issues faced fertility problems, but careful hormone therapy helped her manage it successfully.

This study in a nine-year-old boy from Lebanon identified a gene mutation (c.1066dup p.(Arg356Profs*16)) associated with a rare inborn error of immunity, characterized by craniosynostosis, jaundice, and several other symptoms, expanding the known genotypic and phenotypic spectrum of this condition.

This study found that mutations in the K17 gene underlie both pachyonychia congenita type 2 and steatocystoma multiplex phenotypes, regardless of the specific mutation involved.

This study found that the rs3185480 polymorphism in the APCDD1 gene was associated with an elevated risk of developing androgenic alopecia and reduced protein levels, potentially due to altered codon usage affecting translation efficiency.

This article discusses congenital adrenal hyperplasia due to 21 hydroxylase deficiency as a cause of ambiguous genitals in 46XX individuals and reports no new research findings.

This case report describes a woman diagnosed with Cronkhite-Canada syndrome whose gastrointestinal symptoms and alopecia improved significantly after systemic prednisone treatment, with no recurrence four years after a second treatment course.

In this study of 20 female patients with Covid-19-induced persistent Telogen Effluvium, intra-dermal QR678 Neo® treatments led to significant reductions in hair fall and increases in hair growth and density, sustained even post-therapy.

This case report describes a 33-year-old Indian male with Cronkhite-Canada syndrome who experienced complete symptom recovery within 5 months after starting a high protein diet, proton pump inhibitors, and zinc-vitamin supplements.

This study reviews the mechanisms by which SARS-CoV-2 may impact male fertility, noting potential disruptions in spermatogenesis and hormone secretion, and underscores the need for follow-up in recovered men.

This study identified three SPINK5 mutations, including two novel ones, in Israeli patients with Comèl-Netherton syndrome, suggesting recurring mutations that should inform future diagnostic strategies in Israel.

This study reports a case of constrictive pericarditis associated with COVID-19, highlighting the need for imaging, biomarkers, and histology for effective evaluation and treatment decisions.

In this study, researchers found no significant association between selected CYP19A1 and ESR2 gene SNPs and female androgenetic alopecia in the Polish population studied.

This study investigated the possible role of neutrophil extracellular traps in contributing to fibrosis in stenotic Crohn's disease.

This report examines the cautious approach to administering live vaccines to an infant with a heterozygous FOXN1 variant, noting the importance of monitoring TREC levels and immune function indicators in guiding vaccination decisions in such cases.

A bull with a gene mutation was asymptomatic, synthetic retinoids cause hair loss, and new therapeutic targets were identified for skin diseases.

In this study, researchers found that specific mutations in iRhom2 in mice lead to skin and hair abnormalities which depend on the presence of the protein ADAM17, suggesting a complex role for iRhom2 in tissue development and potential implications for treating tylosis with oesophageal cancer.

This study found that hepatic KRT79 expression is regulated by PPARA and is significantly associated with liver stress, suggesting it may serve as a diagnostic marker for liver diseases.

This case report illustrates how SNP array testing helped identify a DCAF17 mutation linked to Woodhouse-Sakati syndrome in consanguineous Qatari siblings with shared features including alopecia and hypogonadotropic hypogonadism.

This letter reports a homozygous missense mutation in the LIPH gene causing autosomal recessive hypotrichosis simplex in a Chinese patient.

This study suggests that the DNMT3B -579 G>T polymorphism may be a genetic risk factor for colorectal cancer in the Azerbaijani population.

This case report describes a 40-year-old woman with Cronkhite-Canada Syndrome whose symptoms, including gastrointestinal issues and skin changes, improved significantly with corticosteroids, co-infection treatment, and nutritional counseling.

This review discusses the genetic origins of autosomal recessive woolly hair with hypotrichosis and reports no clinical results; it highlights the link to homozygous variants in the K25 keratin gene.

This study reports that transgene insertion in homozygous transgenic mice causes irreversible hair loss and impaired immune function, linked to interruption of the hairless locus on Chromosome 14.

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.

In this study, researchers observed that approximately 25% of patients experienced hair loss after COVID-19 infection, with nonscarring alopecia being the most common form.

This study found that AIRE, a usually nuclear protein, is expressed in the cytoplasm of human epidermal and follicular keratinocytes and associates with the intermediate filament protein cytokeratin 17, potentially impacting ectodermal abnormalities in APECED syndrome.

In this study, researchers observed monochorionic diamniotic twins with discordant clinical phenotypes, where one had high-grade trisomy 12p mosaicism in certain tissues, while the other showed confined mosaicism likely due to twin-to-twin transfusion.

This case report described a 39-year-old male with 47XXY/46XX mosaic Klinefelter syndrome who presented with common features of the condition and male pattern baldness seen in his family.