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150-180 / 1000+ results research MOESM1 of A missense variant in the coil1A domain of the keratin 25 gene is associated with the dominant curly hair coat trait (Crd) in horse
research A Mutational Hotspot in the 2B Domain of Human Hair Basic Keratin 6 (hHb6) in Monilethrix Patients
A common mutation in the hHb6 gene is linked to monilethrix, but other factors may also play a role.
research Novel splice site mutation in the LIPH gene in a patient with autosomal recessive woolly hair/hypotrichosis: Case report and published work review
A new mutation in the LIPH gene was found to cause a rare hair disorder in a Japanese boy.
research A report on neglected case of systemic lupus erythematosus presenting by Degos’ skin disease and diffuse non-scarring alopecia with dramatic response to treatment
The treatment led to significant hair regrowth in a lupus patient.
research Homozygous missense mutation in theLIPHgene causing autosomal recessive hypotrichosis simplex in a Chinese patient
A specific gene mutation causes a rare hair loss condition in a Chinese patient.
research Decision letter: Structural basis of malodour precursor transport in the human axilla
The study identified a key protein involved in producing underarm odor and found ways to inhibit it.
research The L412F variant of Toll-like receptor 3 (TLR3) is associated with cutaneous candidiasis, increased susceptibility to cytomegalovirus, and autoimmunity
The L412F variant of TLR3 is linked to skin infections, more viral infections, and autoimmune issues.
research Blue-gray discoloration of the skin after levofloxacin exposure in a 44-year-old man with pulmonary tuberculosis
Levofloxacin may cause skin discoloration and hair loss as side effects.
research Lanceolate hair-J (lahJ ): A mouse model for human hair disorders
The Lanceolate hair-J mutation in mice mimics human hair disorders like Netherton's syndrome.
research Determination of vinflunine in Beagle dog′s plasma by LC-MS and study of its pharmacokinetics
The method accurately measures vinflunine in dog plasma.
research Erythema Nodosum Leprosum
The study suggests that complement activation, not immunoglobulins, may be important in erythema nodosum leprosum.
research Optimization of LC method for the determination of testosterone and epitestosterone in urine samples in view of biomedical studies and anti-doping research studies
Researchers developed a reliable method to measure testosterone and epitestosterone in urine for medical and anti-doping use.
research A case of monilethrix caused by novel compound heterozygous mutations in the desmoglein 4 (DSG4) gene
New mutations in the DSG4 gene cause a rare hair condition.
research 0196 Levamisole-induced pyoderma gangrenosum case report
research 0955 Selective BET inhibition as potential hidradenitis suppurativa treatment
research Transgenic HPV11-E2 protein modulates URR activity in vivo
The E2 protein affects gene activity in hair follicles of mice.
research Novel small‐insertion mutation in the LIPH gene in a patient with autosomal recessive woolly hair/hypotrichosis
Researchers found a new mutation in the LIPH gene of a woman with a rare hair condition.
research Halberd Flap for Combined Nose Tip and Columella Repair
research Localized variant of junctional epidermolysis bullosa with R795X mutation
Early and accurate diagnosis is crucial for managing rare genetic disorders like this localized variant of junctional epidermolysis bullosa.
research 034 Characterization of novel TMEM173 mutation causing a lupus- and SAVI-like phenotype, modified by polymorphisms in TMEM173 and IFIH1
A new mutation in the STING protein causes a disease with lupus-like symptoms and responds well to a specific inhibitor treatment.
research Eflúvio telógeno crônico = análise clínica, laboratorial, histológica e imuno-histoquímica = Chronic telogen effluvium: clinical, laboratory, histological and immunohistochemical analyses
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research UNUSUAL PRESENTATION OF LUPUS ENTERITIS WITH COLORECTAL INVOLVEMENT: A RARE CASE REPORT IN BANGLADESH
A rare lupus case in Bangladesh improved with specific treatment.
research Tcf3 and Lef1 regulate lineage differentiation of multipotent stem cells in skin
Tcf3 and Lef1 are key in deciding skin stem cell roles.
research HtrA1L364P leads to cognitive dysfunction and vascular destruction through TGF‐β/Smad signaling pathway in CARASIL model mice
The HtrA1L364P mutation causes brain dysfunction and blood vessel damage.
research ERRATUM
research 17beta Hydroxysteroid Dehydrogenase Type 3 Inhibitors
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research Diagnostic value of the diagonal earlobe crease in combination with lipoprotein(a) in coronary heart disease
Diagonal earlobe crease and lipoprotein(a) together help diagnose coronary heart disease.
research Unexpectedly high carrier rates and genotype/phenotype correlation; LIPH mutations in Japanese autosomal recessive woolly hair/hypotrichosis
Certain gene mutations in Japanese people are linked to different types of hair loss, with some causing mild hair thinning and others leading to complete baldness.
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.