research Integration of Point-of-Care Technology in the Decoding Process of Single Nucleotide Polymorphism for Healthcare Application †
Portable point-of-care testing can improve quick and accurate genetic disorder detection.
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research Hair of the Dog: Identification of a Cis-Regulatory Module Predicted to Influence Canine Coat Composition
Researchers found a genetic region that influences the number of coat layers in dogs.
research Azathioprine‐induced severe myelosuppression accompanied by massive hair loss and painful oral ulcer in an autoimmune hepatitis patient with NUDT15 minor variant: A case report
Genetic testing is crucial before giving azathioprine to avoid severe side effects.
research Increased Susceptibility to Skin Carcinogenesis Associated with a Spontaneous Mouse Mutation in the Palmitoyl Transferase Zdhhc13 Gene
A mouse gene mutation increases the risk of skin cancer.
research Skin and hair abnormalities of Cantu syndrome: A congenital hypertrichosis due to a genetic alteration mimicking the pharmacological effect of minoxidil
Cantu syndrome, which causes excessive hair growth and skin issues, is due to a mutation in the ABCC9 gene, and understanding this could help develop new treatments for hair diseases.
research Identificación de la variación molecular y genética subyacente a las enfermedades de la piel
Non-coding RNAs may be key in diagnosing and treating rare skin disorders.
research Measuring steroids in hair opens up possibilities to identify congenital adrenal hyperplasia in developing countries
Hair steroid measurement is an effective method to diagnose and monitor CAH in developing countries.
research Interleukin 15 Gene Polymorphism in patients with Alopecia Areata
Targeting IL-15 may help treat Alopecia Areata.
research AORTOCAVAL PARAGANGLIOMA IN VON HIPPEL-LINDAU DISEASE
VHL disease can cause early paragangliomas, needing lifelong monitoring.
research Localized in vivo genotypic and phenotypic correction of the albino mutation in skin by RNA-DNA oligonucleotide
research Autosomal recessive hypotrichosis simplex with woolly hair: a report of a new family
Two siblings were found to have a genetic condition causing progressive hair loss and woolly hair, which may often be misdiagnosed.
research Mutations in the helix termination motif of mouse type I IRS keratin genes impair the assembly of keratin intermediate filament
Mutations in specific keratin genes cause improper hair structure in mice due to faulty keratin protein assembly.
research Autosomal Recessive Hypotrichosis with Woolly Hair Caused by a Mutation in the Keratin 25 Gene Expressed in Hair Follicles
A mutation in the KRT25 gene causes a rare hair disorder with thin, woolly hair.
research Focal Scalp Hair Heterochromia in an Infant
An infant had two different natural hair colors on the scalp with no health issues.
research HSD3B1 gene polymorphism and female pattern hair loss in women with polycystic ovary syndrome
HSD3B1 gene variant and being overweight linked to hair loss in women with polycystic ovary syndrome.
research Evaluation of the predictive capacity of DNA variants associated with straight hair in Europeans
Certain DNA variants can predict straight hair in Europeans but are not highly specific.
research Sequence and Expression of Murine Type I Hair Keratins mHa2 and mHa3
mHa2 and mHa3 keratins have different structures and roles in mouse hair and tongue tissues.
research Case Report: Compound heterozygous variants in LSS and TSPEAR genes causing hypotrichosis type 14 complicated with ectodermal dysplasia type 14
A child has a rare hair and skin disorder due to specific gene variants, suggesting broader genetic testing is needed.
research Association of insulin-like growth factor 2 Apa1 A820G gene (rs680) polymorphism with polycystic ovarian syndrome
A certain gene variation is linked to a higher risk of polycystic ovarian syndrome in South Indian women.
research Prenatal diagnosis of a fetus harboring an intermediate load of the A3243G mtDNA mutation in a maternal carrier diagnosed with MELAS syndrome
Prenatal genetic diagnosis may not predict MELAS syndrome severity in offspring.
research Faculty Opinions recommendation of Hidradenitis suppurativa as a potential subtype of autoinflammatory keratinization disease.
Hidradenitis suppurativa may be a type of autoinflammatory skin disease linked to gene mutations and immune system issues.
research Cell Polarization Defects in Early Heart Development
Defects in certain proteins cause major heart abnormalities during early development.
research Gene detection in a family with monilethrix and treatment with 5% topical minoxidil
5% topical minoxidil improves hair density and quality in monilethrix patients.
research Is Prenatal Sex Hormone Balance a Risk Factor for the Development of Hidradenitis Suppurativa
Lower 2D:4D finger ratios in HS patients suggest prenatal hormone influence on the disease.
research Association Between Interleukin 18 Polymorphisms and Alopecia Areata in Koreans
Certain genetic variations in IL18 may increase the risk of alopecia areata in Koreans.
research Unusual acute lupus hemophagocytic syndrome – a test of diagnostic criteria: a case report
The 2012 criteria are better for diagnosing atypical lupus cases.
research LUNG IS A BATTLEFIELD: DIFFUSE ALVEOLAR HEMORRHAGE IN ANTIPHOSPHOLIPID SYNDROME
Early recognition and a team approach are crucial for managing diffuse alveolar hemorrhage in antiphospholipid syndrome.
research Abnormal epigenetic modifications in peripheral blood mononuclear cells from patients with alopecia areata
Epigenetic changes in blood cells may contribute to alopecia areata.
research Alopecia Areata in Aging C3H/HeJ Mice
Alopecia areata in these mice is inherited, more common in young females, and can be treated with triamcinolone acetonide.
research 478 Mutation-specific siRNA Knockdown of GJB2 − Potential gene therapy for Keratitis-ichthyosis-deafness Syndrome
Targeted siRNA therapy may be a promising treatment for KID syndrome by reducing mutant gene expression and improving cell communication.