research Human ClinicalPhenotype Associated with FOXN1 Mutations
FOXN1 mutations cause severe immunodeficiency, hair loss, nail issues, and thymus defects.
Search
for
Sort by
Research
210-240 / 1000+ results
research Genetic screening of non-classic CAH females with hyperandrogenemia identifies a novel CYP11B1 gene mutation
A new mutation in the CYP11B1 gene was found in a woman with mild hyperandrogenemia, a rare cause of non-classic congenital adrenal hyperplasia.
research 494 Congenital generalized hypertrichosis with a copy number variation on chromosome 17q24
A girl with excessive hair growth had a genetic change on chromosome 17 that reduced the activity of two genes linked to hair growth.
research MITF E318K naevus phenotype: the modifying role of MC1R Red Hair Variants
research A Case of Cronkhite-Canada Syndrome Presenting with Hematochezia
Cronkhite-Canada syndrome can cause multiple gastrointestinal polyps and various physical symptoms.
research Cutaneous signs in COVID ‐19 patients: A review
COVID-19 can cause different skin symptoms that may help with early diagnosis and show how severe the disease is.
research 129 Genetic transformation of keratoacanthoma-type cutaneous squamous cell carcinoma following intralesional chemotherapy
Intralesional chemotherapy with 5-fluorouracil and methotrexate may worsen keratoacanthoma-type skin cancer in transplant patients.
research Mister XX
Most 46XX CAH patients have female identity, but a few identify as male and may need treatment and surgery.
research GBP1 as a machine learning-prioritized biomarker and therapeutic target for epstein-barr virus-induced clear cell renal cell carcinoma: multi-omics causal validation
GBP1 is a key target for treating Epstein-Barr virus-related kidney cancer, and finasteride may help.
research A Novel Marker of Tissue Junctions, Collagen XXII
Collagen XXII is a marker for tissue junctions, aiding in structural integrity and found in muscles, heart, skin, and arthritic joints.
research SUN-208 Rare Case of 47XXY/46XX Mosaic Klinefelter Syndrome
Mosaic Klinefelter syndrome can affect male fertility and may be missed in routine tests.
research Monilethrix in monozygotic twins with very rare mutation in KRT 86 gene
Identical twins with a rare KRT 86 gene mutation both have the hair disorder monilethrix.
research A Rare Case of Cronkhite-Canada Syndrome
Early diagnosis and nutritional support are crucial for managing Cronkhite-Canada Syndrome.
research Clinical Snippets
A bull with a gene mutation was asymptomatic, synthetic retinoids cause hair loss, and new therapeutic targets were identified for skin diseases.
research LB789 Novel IFNγ aptamer TAGX-0003 protected hair follicles from immune privilege collapse and reversed Alopecia Areata like phenotype in humanized mouse model
TAGX-0003 protected hair follicles and reversed alopecia areata in a mouse model.
research Read-Through for Nonsense Mutations in Type XVII Collagen‒Deficient Junctional Epidermolysis Bullosa
A new therapy for a skin blistering condition has not been developed yet.
research An immune regulatory CCT repeat containing oligodeoxynucleotide capable of causing hair loss in male mice
A specific DNA sequence caused hair loss in male mice by activating immune cells and increasing a certain immune signal.
research Cases Report the Cronkhite-Canada Syndrome
Cronkhite-Canada syndrome may be more treatable and less severe than previously thought.
research P095 The Very Interesting Small Bowel Lesions of Cronkhite-Canada Syndrome
Small bowel lesions in Cronkhite-Canada syndrome persist despite steroid treatment.
research A frameshift mutation in HTRA1 expands CARASIL syndrome and peripheral small arterial disease to the Chinese population
A new genetic mutation linked to CARASIL syndrome and small artery disease was found in a Chinese family.
research Pitfalls of PCR-Based Strategy for Genotyping Cre-Loxp Mice
PCR genotyping in cre-loxP mice can be inaccurate due to unintended gene deletions in non-target tissues.
research Exploring Clinical and Imaging Differences in COVID-19: an Observational Approach to the IFITM3 rs12252 Polymorphism
The G allele of IFITM3 rs12252 is linked to more severe COVID-19.
research Functional analysis of collagen XVII in epithelial cancers and a mouse model
Collagen XVII is important for cell functions and its absence can worsen cancer outcomes.
research Mutation of the doublecortin gene in male patients with double cortex syndrome: Somatic mosaicism detected by hair root analysis
Hair root analysis can effectively detect somatic mosaicism in double cortex syndrome.
research Ultrastructural evidence for anagen hair follicle infection with SARS‐CoV ‐2 in early‐onset COVID ‐19 effluvium
COVID-19 may cause early hair loss by infecting hair follicles.
research Disruption of tubular Flcn expression as a mouse model for renal tumor induction
Disrupting the Flcn gene in mice causes early kidney cysts and tumors, which can be treated with rapamycin.
research Hair follicle mesenchymal stem cell exosomal lncRNA H19 inhibited NLRP3 pyroptosis to promote diabetic mouse skin wound healing
A substance from hair follicle stem cells helps heal skin wounds in diabetic mice by promoting cell growth and preventing cell death.
research ACKR2 limits skin fibrosis and hair loss through IFN‐β
ACKR2 helps prevent skin scarring and hair loss by controlling inflammation.
research A novel missense mutation (C622G) in the zinc‐finger domain of the human hairless gene associated with congenital atrichia with papular lesions
A new gene mutation causes a rare type of hair loss.
research Association between the D19S884 marker at the insulin receptor gene locus and polycystic ovary syndrome
There's no significant link between the D19S884 marker at the insulin receptor gene and polycystic ovary syndrome.