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This study identified a 14,883 bp genomic deletion affecting the Plcd1 and Vill genes as likely responsible for the abnormal phenotype observed in snthr-1Bao mice.

This study systematically reviewed clinical findings in trichothiodystrophy patients and suggested a new clinico-genetic classification to help better understand the ichthyotic phenotype and its management.

This study reports no new clinical results as it focuses on risk score analysis using top SNPs identified in genome-wide significant loci.

In this study, researchers propose that the EDAR V370A allele's positive selection in East Asian populations may be linked to stable aquatic resources from Late Pleistocene ecosystems in northern China, suggesting a "nutritional niche construction" framework where these resources offset the allele's metabolic costs.

This study identified a nonfunctional Itpr3 gene in BTBR mice, attributed to a 12-bp deletion, which likely causes their simultaneous hair loss and taste perception deficits.

In this case-control study, researchers did not find genome-wide significant genetic variants for trichotillomania, but cases had higher polygenic risk for psychiatric disorders and certain neuropsychiatric-associated copy number variants.

The Thr1022Ala variant in the hairless gene is not a disease-causing mutation.

This study identified a novel CDH3 mutation associated with sparse hair and pigmentary macular changes in two siblings with hypotrichosis but no visual symptoms.

In this case report, a 17-year-old male with a specific TRPS1 gene mutation presented with sparse, soft hair, short thumbs and toes, misaligned teeth, and distinctive bone abnormalities in the fingers and toes as observed through X-ray analysis.

This study found that using trait prevalence-informed priors may improve the prediction accuracy of appearance traits in Bayesian models, but their application is limited by sparse knowledge on trait prevalence.

This study concluded that the frizzy mutation in mice is linked to a T to A transversion in Prss8 and is orthologous to the 'hairless' mutation in rats.

A genetic mutation linked to longer life and less disease was found in the Amish, and a drug is being developed to replicate these benefits.

This study found that mutations in exon 3 of the hr gene are strongly associated with congenital hypotrichosis in Valle del Belice sheep, suggesting a potential genetic link to the disorder.

This study observed that five out of fourteen individuals aged 13-16 years, who were homozygous for the p.C282Y mutation related to hemochromatosis, had increased liver and phlebotomy-mobilized iron levels.

This study found that a genetic model using SNPs can predict early-onset male-pattern baldness with moderate accuracy, which may assist in decisions about interventions.

This study found that mimicking the XPD point mutation in mice resulted in trichothiodystrophy-like symptoms, supporting the role of basal transcription and DNA repair defects in the disease.

This study reports that variation in the ovine TCHH gene may influence wool fibre curvature, with specific gene variants affecting the mean fibre curvature in sheep.

This study found that hair from mice with the Naked trait mutation has significantly lower levels of glycine and tyrosine, suggesting a deficiency in a specific protein fraction.

In this study, a transgenic mouse model suggested that suppressing the expression of the HGPS mutation may reverse disease symptoms, including skin abnormalities, supporting the potential for treatment development.

This study concluded that allele-specific PCR (AS-PCR) is more reliable than tetra-primer ARMS-PCR for genotyping the SNP rs1998076 due to better stability and interpretability.

In this review, the authors emphasize that phenotypic heterogeneity in genetic systems and human diseases is influenced by stochastic fluctuation and network topology, proposing that ultrasensitivity and threshold effects explain this variability, which may inform strategies for preventing and treating genetic diseases.

This study suggests that the HCR risk allele within the PSORS1 locus may contribute to psoriasis susceptibility by altering gene expression related to skin structure and differentiation, although these changes alone might not result in clinical symptoms.

In this study, researchers identified a recurrent MBTPS2 splice-site variant as a mutational hotspot in IFAP syndrome across diverse families, with phenotype severity suggesting the influence of additional modifiers.

This study found that both genome-wide screening methods identified the VTRNA2-1 epiallele as highly responsive to environmental influences, suggesting a link between early embryonic environment, epigenetic changes, and human disease.

This study found a novel nonsynonymous genetic variant in the hHb1 gene of a family with monilethrix, which differs from ten previously reported pathogenic mutations.

This study found that a hypomorphic mutation in the Hr gene contributes to the development of diet-induced pruritic atopic skin in mice, particularly when combined with dietary deficiencies of polyunsaturated fatty acids and starch.

In this study, researchers found that two dominant haplotypes in the EDA2R/AR intergenic region have likely been shaped by demographic changes and selection during human evolution, particularly notable in African and non-African populations.

This chapter reviews Hutchinson–Gilford progeria syndrome as a model for studying aging but presents no new findings, covering its genetic basis, clinical features, and existing treatments.

THAP1 gene changes do not affect DYT1 dystonia; finasteride may help reduce tics and OCD in Tourette syndrome.

This study found that certain tandem repeats predict darker hair color across diverse ancestry groups and can contribute to a polygenic score for hair color, independent of SNP variation.