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The researchers reported two brothers with a new variant of X-linked trichothiodystrophy associated with an RNF113A gene mutation, highlighting features such as intellectual disability and growth failure, but without previously reported endocrinological or genital abnormalities, underlining the importance of genetic counseling for such variants.

The study examined cytokeratin expression in different bovine epithelial tissues, finding that hair follicles and nasolabial glands express both acidic and basic types, while other epithelia express only one type.

This article presents a case of 5-alpha-reductase deficiency in a Saudi individual, reporting no new research findings.

This study found that genes in the human keratin-associated protein 1 family may have evolved mainly through gene duplication of cysteine-repeat motifs.

A specific hair protein variant increases the spread of breast cancer and is linked to worse survival rates.

In this case study, administration of prednisolone and Bactrim for a woman with Cronkhite-Canada syndrome led to the cessation of diarrhea, increased serum protein, and improvement in hyperpigmentation and hair regrowth.

This study suggests that BTP levels in cerebrospinal fluid might help diagnose CIDP and predict therapy response but require validation in larger cohorts.

This abstract reviews hereditary vitamin D-resistant rickets, a rare genetic condition causing severe early childhood rickets, and reports no new results; effective treatment typically requires high doses of calcium to address hypocalcemia and secondary hyperparathyroidism.

This study reported the creation of isogenic immortalized COL7A1-deficient keratinocyte lines, providing a model for researching Recessive Dystrophic Epidermolysis Bullosa biology and potential therapies.

This report describes a Cronkhite-Canada syndrome patient with severe sepsis and disseminated intravascular coagulation successfully treated using combined therapies, including recombinant human soluble thrombomodulin.

This study found that FGF5-/- rabbits exhibited a significant long hair phenotype by prolonging the anagen phase, suggesting FGF5 acts as a negative regulator of hair growth.

This review discusses the molecular mechanisms and clinical applications of thymosin β4, highlighting its potential benefits for inflammation, wound healing, tumor metastasis, and other medical conditions but reports no new experimental results.

This study discusses calcinosis cutis and alopecia totalis, highlighting the need for thyroid disease screening in children with alopecia areata, especially those with a history of Down syndrome or signs of potential thyroid dysfunction.

This study found that FRβ knockout mice exhibited autoimmune symptoms and slower tumor growth compared to wild type mice, suggesting that the FRβ receptor may play a role in regulating immune responses in tumors and autoimmune conditions.

This study investigated a Labrador Retriever with paw pad hyperkeratosis and identified a unique de novo heterozygous missense variant in the GJB6 gene, suggesting its potential role in the condition, analogous to Clouston syndrome in humans, although differences between species may provide further insights.

Type I keratin genes are closely linked to the rex locus on mouse chromosome 11, affecting hair development.

This research found that activating a KrasG12D mutation in mice led to skin thickening, papillomas, and hair growth issues, suggesting that even rare KRAS mutations can mimic human RAS/MAPK syndrome symptoms.

This study found that adults with β-thalassemia major had a significantly higher prevalence of skin, hair, and nail disorders compared to healthy controls, influenced by factors like age, gender, and ferritin levels.

This study isolated and sequenced the complete gene rKAP4L1, which encodes a cysteine-rich hair keratin-associated protein in rabbit hair follicles.

This study found that Thy1+ keratinocytes in the basal layer of the interfollicular epidermis play a crucial role in epidermal homeostasis and wound repair, with their ablation impairing these processes.

This study demonstrated that a specific 9-kbp fragment of the bovine keratin 6 gene effectively directs tissue-specific and inducible expression in transgenic mice, suggesting potential applications for targeted gene therapy in hyperproliferative skin conditions.

This study found that topical treatment with 7DHC and BM15766 reduced hair growth in mice compared to those treated with Ethanol/DMSO, and hair did not recover after treatment ceased, alongside increased apoptotic cells and decreased expression of specific genes.

This article reviews the role of KLF4, a transcription factor, in various cellular processes and its dual function as a tumor suppressor or oncogene depending on the context, but presents no new experimental results.

This study mapped the curly mutation in mice to a specific region on chromosome 11, identifying it as a candidate model for studying human genetic hair disorders.

Krox20 is important for cell differentiation in the brain and hair follicles.

The research identified six functional hair keratin genes and four pseudogenes, providing insights into hair formation and gene organization.

This study found that human keratinocytes express a sodium-dependent multivitamin transporter for biotin, pantothenic acid, and lipoic acid, including a highly specific biotin transport component.