research Review of the Literature
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300-330 / 1000+ results 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 Surgical Assistants Corner
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research Heterozygous KRT32 variant is responsible for autosomal dominant loose anagen hair syndrome
A KRT32 gene variant causes loose anagen hair syndrome.
research A review of HAIRCON 2011
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research Informàtica i Dret penal: Els delictes relatius a la informàtica
Two new gene mutations cause a rare hair disorder.
research Heterozygous deletion of the NSDHL gene in an Appenzeller Mountain Dog with verrucous epidermal keratinocytic nevi
A genetic defect in an Appenzeller Mountain Dog caused skin issues, improved with ketoconazole, showing the importance of advanced genetic testing.
research Poster presentationsSG11 KRT14 pathogenic or likely pathogenic variants beyond epidermolysis bullosa: dermatopathia pigmentosa reticularis
KRT14 gene variants cause dermatopathia pigmentosa reticularis, affecting nails, teeth, and hair.
research Report on the 6th Congress and Live Surgery Workshop of the ESHRS Berlin, GermanyFriday, May 30, 2003Saturday, May 31, 2003Sunday, June 1, 2003
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research Genotype Triad for HOTAIR rs10783618, LINC-ROR rs1942347, and MALAT1 rs3200401 as Molecular Markers in Systemic Lupus Erythematous
Certain genetic markers can indicate higher or lower risk for systemic lupus erythematosus.
research Co-editor’s note
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research Case Report: A Chinese Family of Woodhouse-Sakati Syndrome With Diabetes Mellitus, With a Novel Biallelic Deletion Mutation of the DCAF17 Gene
A new mutation in the DCAF17 gene was found in a Chinese family, causing Woodhouse-Sakati syndrome and diabetes.
research signatureSearch: environment for gene expression signature searching and functional interpretation
The package helps analyze and interpret gene expression data by comparing it to a database of conditions.
research Analyzing the role of ACE2, AR, MX1 and TMPRSS2 genetic markers for COVID-19 severity
MX1 and AR genes are linked to milder COVID-19, while TMPRSS2 increases severe risk, especially in women.
research A phase IIA randomized, placebo-controlled clinical trial to study the efficacy and safety of the selective androgen receptor modulator (SARM), MK-0773 in female participants with sarcopenia
MK-0773 safely increased muscle mass but did not improve muscle strength or function in elderly women with sarcopenia.
research Berardinelli–Seip syndrome
Early diagnosis and treatment are crucial for managing Berardinelli–Seip syndrome.
research Genotyping of the rs1800440 Polymorphism in CYP1B1 Gene and the rs9258883 Polymorphism in HLA-B Gene in a Spanish Cohort of 223 Patients with Frontal Fibrosing Alopecia
Certain genetic variants are linked to frontal fibrosing alopecia in Spanish patients.
research Notes from the Editor Emeritus, 2005–2007
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research Supplemental material_PM_AGA
research Supplemental material_PM_AGA
research Functional Characterization offer-ts, a Temperature-Sensitive FERONIA Mutant Allele That Alters Root Hair Growth
The fer-ts mutation in plants prevents root hair growth at high temperatures.
research CDH3 Mutation in Saudi Arabia: A Case of Hypotrichosis With Juvenile Macular Dystrophy
A genetic mutation in the CDH3 gene causes hair loss and vision problems in a young Saudi girl.
research President's Message
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research President's Message
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research President's Message
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research Salute to Surgeon of the Month
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research A Case of Tricho-rhino-phalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the TRPS1 Gene
A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.
research Hydration, Hydration, Hydration… Education, Education, Education
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research The Telomerase Reverse Transcriptase (TERT) Gene Molecular Characterization in Sheep and the Association of Its Variation with Wool Traits
This study examined the Telomerase Reverse Transcriptase (TERT) gene in 315 Gansu alpine fine wool sheep to explore its impact on wool traits. Researchers identified six single nucleotide polymorphisms (SNPs) in the TERT gene, with two non-synonymous SNPs linked to mean wool staple strength (MSS). Notably, sheep with the CC genotype at SNP1 and GG genotype at SNP2 exhibited higher MSS, indicating potential for improved textile manufacturing. TERT mRNA expression was particularly strong in the dermal papilla, suggesting a role in hair follicle regeneration and wool fiber growth. While these findings highlight TERT as a candidate gene for wool strength, further studies across different sheep populations are necessary to validate these results.
research NIPAL4 mutation c.527C˃A identified in Romanian patients with autosomal recessive congenital ichthyosis
The NIPAL4 mutation c.527C>A is common in Romanian patients with autosomal recessive congenital ichthyosis.