research A Case Report of Werner’s Syndrome With a Novel Mutation From India
A new genetic mutation causing Werner's syndrome was found in an Indian man.
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300-330 / 1000+ results research Atrichia with Papular Lesions in a Chinese Family Caused by Novel Compound Heterozygous Mutations and Literature Review
New genetic mutations causing hair loss were found in a Chinese family.
research Identification and characterization of genes for skin and hair disorders
New gene variants were found for rare skin and hair disorders, improving understanding and treatment.
research Different Patterns of Lichen Planus in Three Members of One Family
Lichen Planus in siblings may be influenced by genetics and environment.
research Identification and molecular characterization of a new ovarian cancer susceptibility locus at 17q21.31
A new genetic region, 17q21.31, is linked to higher ovarian cancer risk.
research Mutational spectrum in 101 patients with hypohidrotic ectodermal dysplasia and breakpoint mapping in independent cases of rare genomic rearrangements
Researchers found genetic mutations causing hypohidrotic ectodermal dysplasia in 88% of studied patients and identified new mutations and genetic variations affecting the disease.
research A Powerful Method for Pleiotropic Analysis under Composite Null Hypothesis Identifies Novel Shared Loci Between Type 2 Diabetes and Prostate Cancer
The new method found new shared genetic areas linked to both Type 2 Diabetes and Prostate Cancer.
research Di-Genic Inheritance in Genodermatoses: Insights from Two Consanguineous Cases in a Reference Lebanese Center within the Middle East and North Africa (MENA) Region
A new genetic model may improve treatment and diagnosis for certain inherited skin diseases.
research Clinical and molecular features in a cohort of Middle Eastern patients with epidermolysis bullosa
Middle Eastern patients with epidermolysis bullosa show specific genetic mutations linked to different types of the disease.
research Australasian Society for Dermatology Research Meeting, May 2006
The meeting highlighted the genetic basis of female pattern hair loss and various skin health insights.
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 Woodhouse-Sakati Syndrome Due to the Rare DCAF17 c.321+1G>A Mutation: The Second Case Report Worldwide
A rare genetic mutation causes Woodhouse-Sakati syndrome symptoms.
research Genome-wide association study in Japanese females identifies fifteen novel skin-related trait associations
Researchers found 15 new genetic links to skin traits in Japanese women.
research Why were Sardinians the shortest Europeans? A journey through genes, infections, nutrition, and sex
Sardinians were historically short due to a mix of genetics and factors like disease and poor nutrition, but recent height increases suggest better living conditions had a bigger impact.
research From bedside to bench: regulation of host factors in SARS-CoV-2 infection
The conclusion is that certain genetic factors and blood types may affect COVID-19 severity, but changes in ACE2 and TMPRSS2 genes are not clearly linked to it.
research Ugreelig hår
A young boy's uncombable hair is due to a rare genetic condition that usually improves over time.
research Whole-genome SNP genotyping mapped a novel locus for hereditary hypotrichosis on chromosome 2q31.1–q32.2
Researchers found a new area on chromosome 2 linked to a genetic hair loss condition.
research Genomic Markers and Personalized Medicine in Androgenetic Alopecia: A Comprehensive Review
Personalized treatments for hair loss are becoming more effective by using genetic information.
research Male infertility and genitourinary birth defects: there is more than meets the eye
Male infertility and genitourinary birth defects are often linked to genetic issues.
research 8242 A Case of Ayme Gripp Syndrome
Ayme-Gripp Syndrome was confirmed in a woman through genetic testing, highlighting the need to consider rare genetic conditions in diagnoses.
research 8507 Misdiagnosis of Graves’ and RAI Treatment in Patient with THRB Gene Mutation
Misdiagnosis led to unnecessary treatment due to a genetic mutation affecting thyroid hormone resistance.
research Exploring the possibility of predicting human head hair greying from DNA using whole-exome and targeted NGS data
Hair greying is mainly influenced by age, with genetics playing a smaller role.
research Azathioprine-induced Agranulocytosis and Severe Alopecia After Kidney Transplantation Associated With a NUDT15 Polymorphism: A Case Report
A woman experienced severe side effects from a drug due to a specific genetic variation, suggesting genetic testing could prevent such risks.
research Exploring Variation in Ovine KRTAP19-5 and Its Effect on Fine Wool Fibre Curvature in Chinese Tan Sheep
The KRTAP19-5 gene affects wool curvature in Chinese Tan sheep, with Variant B reducing curvature.
research Hepatitis C virus: host, environmental and viral factors promoting spontaneous clearance
Hepatitis C can clear naturally in some people due to strong immune response, genetics, and limited exposure.
research Characterisation of Four New Genes in the Ovine KAP19 Family
Four new genes related to sheep wool were discovered, showing genetic diversity.
research Incidence of adverse cutaneous drug reactions in a Mexican sample: an exploratory study on their association to tumour necrosis factor alpha TNF2 allele
Mexican patients had a lower incidence of skin reactions to drugs and no significant link between these reactions and the TNF2 gene variant.
research The Case | Bilateral kidney tumors and lung cysts
A man with kidney tumors and lung cysts was diagnosed with Birt–Hogg–Dubé syndrome and treated successfully, with genetic testing confirming the diagnosis.
research Compilation of a comprehensive gene panel for systematic assessment of genes that govern an individual’s drug responses
Researchers found that most genes affecting drug responses are not fully covered by commercial SNP chips, suggesting the need for more comprehensive tools to optimize drug selection based on genetics.
research The efficacy and safety of valproic acid medications with controlled active ingredient release in adults in real clinical practice from the position of pharmacokinetic and pharmacogenetic approaches
Sustained-release sodium valproate is effective in treating epilepsy, with some side effects influenced by genetics.