research Genomic Portraiture: The Science and Ethics of DNA Phenotyping in Identity Prediction
DNA phenotyping can predict physical traits like eye, hair, and skin color, improving forensic investigations.
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research DNA phenotyping: current application in forensic science
DNA phenotyping helps predict physical traits from DNA with varying accuracy and requires careful ethical and legal handling.
research Hutchinson-Gilford Progeria Syndrome—Current Status and Prospects for Gene Therapy Treatment
Gene therapy has potential as a future treatment for Hutchinson-Gilford progeria syndrome.
research Atrichia With Papular Lesions Confirmed via Genetic Testing: A Case Report
Genetic testing confirmed a young girl has Atrichia with Papular Lesions due to mutations in the hairless gene.
research The exploration of mitochondrial‐related features helps to reveal the prognosis and immunotherapy methods of colorectal cancer
Mitochondrial features can predict colorectal cancer outcomes and improve immunotherapy.
research The mutational analysis of mitochondrial DNA in maternal inheritance of polycystic ovarian syndrome
Mutations in mitochondrial DNA might significantly contribute to the development of Polycystic Ovarian Syndrome.
research An interview Drs. Felix Brockschmidt and Markus Nöthen about the genetics of androgenetic alopecia
Genetic testing can help understand male pattern baldness.
research A review of genotrichoses and hair pathology associated with inherited skin diseases
Next-generation sequencing greatly improves understanding and treatment of genetic hair disorders.
research Compound Heterozygous Mutations in the Hairless Gene in Atrichia with Papular Lesions
Genetic testing for hairless gene mutations is crucial to correctly diagnose and treat atrichia with papular lesions.
research Prediction of male-pattern baldness from genotypes
Genetic data can predict male-pattern baldness with moderate accuracy, especially for early-onset cases in some European men.
research Recalcitrant Female Pattern Hair Loss Like Alopecia Unveils Unexpected Rare Entity
Genetic testing is crucial for diagnosing rare hair loss disorders.
research Polarized microscopy in genetic hair disorders: case series
Polarized microscopy helps identify hair irregularities in genetic disorders.
research 494 Congenital generalized hypertrichosis with a copy number variation on chromosome 17q24
A girl with excessive hair growth had a genetic change on chromosome 17 that reduced the activity of two genes linked to hair growth.
research Forensic DNA Phenotyping
Forensic DNA Phenotyping accurately predicts physical traits and is used in investigations, but needs more diverse population data for confirmation.
research Congenital Atrichia: A Case Report
Genetic testing is crucial for diagnosing congenital atrichia, a rare condition causing irreversible hair loss.
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 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 Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA)
The UD-PrOZA program successfully diagnosed 18% of adult patients with rare diseases, often using genetic testing.
research Familial 1q22 microduplication associated with psychiatric disorders, intellectual disability and late-onset autoimmune inflammatory response
A specific genetic change is linked to mental disorders, intellectual disability, and possibly autoimmune disease in a family.
research De novo mutation in the mitochondrial tRNALeu(UUR) gene (A3243G) with rapid segregation resulting in MELAS in the offspring
A new mutation in the mitochondrial DNA was found in a boy with MELAS, even though his family didn't show typical signs.
research Novel de novo pathogenic variant in the ODC1 gene in a girl with developmental delay, alopecia, and dysmorphic features
A new genetic mutation in the ODC1 gene causes developmental delay and other symptoms in a young girl.
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 Considerations in genetic counseling of transgender patients: Cultural competencies and altered disease risk profiles
Genetic counselors should be culturally skilled and aware of transgender patients' unique health risks and needs.
research Genomics
Genomics can improve patient care by using DNA to create personalized treatment plans.
research Effect of gamma-ray exposure on the genome-editing efficiency of improved genome-editing via oviductal nucleic acids delivery (i-GONAD)
Gamma-ray exposure improves genome editing efficiency in mice using the i-GONAD method.
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 A newly identified missense mutation of the HR gene is associated with a novel, unusual phenotype of Marie Unna Hereditary Hypotrichosis 1 including limb deformities
A new mutation in the HR gene is linked to a rare form of hair loss with limb deformities.
research 461 Identification of a Novel Pathogenic XPC:c.2420+1G>C Variant in a Patient with Xeroderma Pigmentosum
A new genetic mutation causing Xeroderma Pigmentosum was found in an 8-year-old girl, affecting her DNA repair.
research Utilising SNP Association Analysis as a Prospective Approach for Personalising Androgenetic Alopecia Treatment
Genetic factors could lead to personalized treatments for hair loss.
research Validation and casework testing of the BioPlex-11 for STR typing of telogen hair roots
BioPlex-11 improves DNA profiling from telogen hair roots in forensic work.