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.
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660-690 / 1000+ resultsresearch 원저 : 한국인 안드로겐 탈모증 환자에서 안드로겐 수용체의 CAG 반복 다형성에 관한 연구 -Preliminary Report-
CAG repeat numbers in the AR gene likely don't affect male pattern baldness in Korean men.
research Papillon-Lefévre Syndrome: A Rare Case Report and a Brief Review of Literature
Early detection and multidisciplinary treatment are crucial for managing Papillon-Lefévre syndrome.
research 054 Post Finasteride Syndrome: Guess Who-Demographics from FDA Database
Younger people (median age 35) experience more PFS-like symptoms with 1mg finasteride; more research needed.
research 236 Wnt/planar cell polarity impairment and the genetics of yellow nail syndrome
Genetic defects in the Wnt/PCP pathway may cause congenital yellow nail syndrome.
research Homozygous Nonsense Mutation in DSC3 Resulting in Skin Fragility and Hypotrichosis
A boy's skin fragility and sparse hair were caused by a genetic mutation affecting skin cell adhesion.
research A kindred with mutant IKAROS and autoimmunity
A mutation in the IKZF1 gene causes immune system overactivity, linked to autoimmune diseases like lupus.
research Novel splicing‐site mutation in DCAF17 gene causing Woodhouse‐Sakati syndrome in a large consanguineous family
A new mutation in the DCAF17 gene was found to cause Woodhouse-Sakati syndrome in a large family.
research Familial and Sporadic Porphyria Cutanea Tarda
Most patients with Porphyria Cutanea Tarda had skin blisters and were often affected by hepatitis C and alcohol abuse, with differences between familial and sporadic cases.
research Co-operation between follicular ornithine decarboxylase and v-Ha-ras induces spontaneous papillomas and malignant conversion in transgenic skin
High levels of ODC and a mutant Ha-ras gene cause tumors in mice.
research Size Polymorphisms in the Human Ultrahigh Sulfur Hair Keratin-Associated Protein 4, KAP4, Gene Family
The study found that variations in hair protein genes are likely due to evolutionary deletions or duplications.
research Atypical Juvenile Pityriasis Rubra Pilaris: A Case Report of Early Onset With Late Diagnosis
A rare skin condition in a 17-year-old was diagnosed late, stressing the need for careful evaluation and genetic testing.
research Association between TLR1 polymorphisms and alopecia areata
A specific gene variant (rs4833095) is linked to a higher risk of alopecia areata in Koreans.
research NUDT15 polymorphism explains serious toxicity to azathioprine in Indian patients with chronic immune thrombocytopenia and autoimmune hemolytic anemia: a case series
The NUDT15 gene variant causes severe side effects from azathioprine in some Indian patients.
research CDH3 gene related hypotrichosis and juvenile macular dystrophy – A case with a novel mutation
A new mutation in the CDH3 gene causes hair loss and vision problems in a young girl.
research Clinical and genetic findings in a Chinese family with VDR-associated hereditary vitamin D-resistant rickets
A Chinese family had a child with a specific gene mutation causing vitamin D-resistant rickets, but the child improved with calcium and low-dose calcitriol.
research Functional analysis of the PIP5K1A gene in Liaoning Cashmere goats: an investigation based on bioinformatics, tissue localization, and biological functions
The PIP5K1A gene helps cashmere growth in goats by promoting cell proliferation, and melatonin boosts its expression.
research Marie Unna hereditary hypotrichosis: Identification of a U2HR mutation in the family from the original 1925 report
Researchers found a gene mutation responsible for a rare hair loss condition.
research Postzygotic KRAS G12C mutation, associated with various malignancies, is also underling epidermal nevus syndrome
A specific mutation known for causing cancer is also found to cause a skin condition in a young girl.
research Role of Aire and Notch4 Allelic Mutations in Alopecia Areata in C3H/HeJ Mice
Aire mutation reduces alopecia areata, while Notch4 mutation prevents it in mice.
research Genetic characterization of congenital defects in dogs : caudal dysplasia, ectodermal dysplasia and mucopolysaccharidosis VII
Mutations in specific genes cause certain congenital defects in dogs, aiding in understanding similar human diseases.
research Androgen receptor gene polymorphism and polycystic ovary syndrome
The conclusion is that androgen receptor gene polymorphism might be a marker for polycystic ovary syndrome, but more research is needed.
research Exploring the role of CYP19A1 single nucleotide polymorphisms in the pathogenesis of female pattern hair loss
Certain gene changes and hormone levels are linked to female hair loss.
research Hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia in four Egyptian families: report of three novel mutations in the vitamin D receptor gene
Three new gene mutations cause rickets and hair loss, treatable with high calcium and calcidol, but hair regrowth is rare.
research Keratins and disease at a glance
Keratins are crucial for tissue strength, and mutations in keratin genes can lead to various diseases, highlighting the need for targeted therapies.
research Safety of Whole-Body Abrogation of the TRF1 Shelterin Protein in Wild-Type and Cancer-Prone Mouse Models
Deleting the Trf1 protein in mice is safe and may help prevent cancer without major side effects.
research Marie Unna hereditary hypotrichosis: A Turkish family with loss of eyebrows and a U2HR mutation
A Turkish family with sparse hair and eyebrow loss has a mutation in the U2HR gene linked to Marie Unna hereditary hypotrichosis.
research Abstract C4: Sp2: A regulator of stem cell differentiation and tumorigenesis
Over-expression of Sp2 can lead to cancer by preventing proper stem cell differentiation.
research Association Between Retinoid X Receptor Gene Variants and Dyslipidemia Risk in an Iranian Population
The rs1128977 gene variant may affect cholesterol and body measurements.
research CYP21A2 Genotypes do not Predict the Severity of Hyperandrogenic Manifestations in the Nonclassical Form of Congenital Adrenal Hyperplasia
The severity of symptoms in nonclassical congenital adrenal hyperplasia is not determined by CYP21A2 gene variations.