Search

everythingexperts & clinicslearnfaqsresearchcommunity

for

Search:↓

This study identified a novel KRT86 mutation associated with autosomal dominant monilethrix, expanding understanding of its genetic basis beyond known motifs.

This article describes the potential applications of myoblast implantation for muscle regeneration and its promising social and economic value but reports no new clinical results.

This study found that integrating machine learning enhances the predictive accuracy of forensic DNA phenotyping from low template DNA, achieving high accuracy for traits like eye color, although challenges remain for admixed populations and complex traits.

This study found a novel R430Q gene mutation in hHb6, which may be linked to the hereditary hair disorder monilethrix in the examined family.

In this thesis, researchers explored ways to enhance the management of myotonic dystrophy type 1 by investigating the genetic inheritance patterns, especially small-sized repeat expansions, and assessing cardiac care, energy expenditure, and body composition in affected individuals.

This study found that aged tritiated thymidine breaks down and incorporates into cytoplasmic macromolecules, not DNA, suggesting caution in its use.

This study identified a mutation in the KRTHB6 gene in two monilethrix families of Indian origin, linking specific genetic variations to different severities of hair defects within the families.

This paper discusses forensic DNA phenotyping, emphasizing its ability to infer visible traits from biological samples without reference samples, but notes ethical and legal concerns related to its use.

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.

In this study, researchers found that specific SNPs in the MTR gene are significantly associated with wool production and quality traits in Chinese Merino sheep, suggesting the gene's potential for sheep breeding.

This research highlights significant advancements in forensic DNA phenotyping, enabling predictions of physical traits, ancestry, and age from crime scene DNA, but notes that further research and validation are needed for greater accuracy and reliability.

In this study, researchers found that DNMT1-mediated methylation of SRD5A2 in urethral epithelial cells from hypospadias-afflicted rats upregulates proteins associated with cell cycle and mitochondrial function, suggesting SRD5A2 as a potential therapeutic target for hypospadias due to its role in modulating cellular functions.

This study found that genetic ablation of Tet genes in mice led to changes in hair structure and keratin gene expression, indicating a role for Tet-mediated 5hmC DNA oxidation in hair follicle development and cycling.

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.

Tiger tail banding and hair abnormalities are reliable indicators for diagnosing trichothiodystrophy.

The research found that while Dnmt3a and Dnmt3b are not necessary for skin homeostasis in mice, the loss of Dnmt3a increases squamous tumor formation from carcinogens, and combined deletion of both results in more aggressive and metastatic tumors.

This review assesses existing knowledge about the 17q21.31 inversion polymorphism, highlighting its genetic structure differences across ancestries, associations with various diseases, and implications for precision medicine and drug discovery.

This study explains that while trichothiodystrophy and xeroderma pigmentosum share genetic defects, TTD patients primarily exhibit issues in transcription initiation, not the increased skin cancer risk seen in XP.

In this study, researchers identified two de novo germline missense mutations in the hair keratins hHb1 and hHb6 in patients with monilethrix whose parents were not clinically affected.

This case report describes a rare occurrence of ectodermal dysplasia features in a 14-year-old with MBTPS1 gene variants, expanding the known spectrum of related disorders.

This study developed a partially automated protocol utilizing hair follicles for DNA extraction in marmosets, achieving reliable whole genome sequencing with low chimerism, offering an efficient alternative to blood for genetic studies in non-human primates.

In this study, deep phenotyping of 68 patients with XPD gene defects successfully separated individuals by clinical diagnosis and survival status, potentially improving diagnosis and prognosis for xeroderma pigmentosum and trichothiodystrophy.

This study found that a heterozygous missense mutation in ATR is associated with a hereditary cancer syndrome, manifested by oropharyngeal cancer and other anomalies, in an autosomal-dominant inheritance pattern across a five-generation family.

This study found that the RapidHIT™ ID system can successfully obtain DNA profiles from single hair roots, particularly those with high nuclei counts.

This commentary discusses how microphthalmic-associated transcription factor levels in circulating tumor cells correlate with melanoma progression and suggests the factor may be up-regulated in vivo, but it reports no new clinical results.

Among families with pediatric brain disease, this study identified over 200 novel genetic causes, revealing potential treatment points using drug repurposing or nutritional supplementation.

A deep learning model was developed to help diagnose trichothiodystrophy by analyzing hair patterns.

The AR gene is linked to male-pattern baldness, TNFSF4 to heart disease, SLC19A3 to BBGD, MCT8 to a syndrome, and segmental duplications to genetic variation.