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The researchers reported increased ubiquitination of proteins such as the insulin receptor in CYLD cutaneous syndrome skin tumors, suggesting that CYLD dysfunction may affect protein secretion and signaling processes.

The Celsr1 gene is crucial for normal hair patterning in mice.

This study examined the expression of fatty acid transporters and binding proteins in mouse sebaceous glands and found that CD36 did not affect the localization of other related molecules.

This study identified a genetic variant in the CTS6 gene associated with a hypotrichosis syndrome, emphasizing the significant role of cystatin M/E in hair and skin health.

This study found that mouse FLRG protein, a secreted glycoprotein, is expressed in certain tissues and plays a role distinct from follistatin during wound healing, suggesting different functions in vivo.

This case report highlights the discovery of a novel TRPS1 gene mutation in a 17-year-old with TRPS type I, underscoring the diagnostic importance of hair symptoms in congenital hair diseases.

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 case report describes a 2-year-old boy diagnosed with trichothiodystrophy, characterized by fragile hair, intellectual damage, diminished fertility, and short stature.

This review discusses recent insights into Birt–Hogg–Dube syndrome, including the functions of the FLCN gene and clinical recommendations for screening and treatment, but it reports no new experimental results.

This study suggests that changes in expressed transcripts and splice isoforms may explain the transition from curly to straight fleece in Chinese Tan sheep as they age.

This review covers the molecular basis of Birt–Hogg–Dubé syndrome and its implications for potential therapeutic targets, but it does not report new experimental results.

This study found that Rab5c is crucial for proper HSPC development in zebrafish embryos by regulating Notch and AKT signaling through endocytic trafficking, with both deficiency and overactivation leading to production defects.

In this study of Danioninae species, researchers reported that the presence of breeding tubercles on the pectoral fins is conserved in certain species and linked to local androgen conversion, with steroid 5-α-reductase playing a crucial role in their development.

This study found that TRF1 plays a crucial role in maintaining pluripotency and stem cell compartments, but it is not a suitable in vivo telomere length marker.

In this study, total Sry transcript expression in various rat tissues was linked to Acsl3 expression, suggesting that Sry may play a role in regulating fatty acid metabolism.

This study optimized a screening assay to identify molecules that inhibit or enhance TRPM5 ion channel activity, which may have implications for treating dysfunctions linked to cardiac arrhythmias and diabetes.

This study observed that a CARASIL mouse model demonstrated abnormal behavior, vascular and cellular changes, and upregulation of the TGF-β/Smad signaling pathway, indicating its potential involvement in CARASIL pathogenesis.

This study describes the first case of female pseudohermaphroditism due to a novel homozygous glucocorticoid receptor gene mutation, indicating possible pre- and postnatal virilization in affected females.

In this study, researchers analyzed over 5,000 T cells per sample using scRNA+TCR-seq technology and found that dual TCR Tregs are present in high proportions across various mouse tissues, showing unique TCR pairing patterns, V(D)J usage, and mRNA expression compared to single TCR Tregs.

In this study, researchers identified genetic factors associated with frontal fibrosing alopecia, noting a protective effect of a specific CYP1B1 gene variant, which may offer insights into the disease's pathogenesis and future risk mitigation strategies.

This study identified that disrupting Mef2c in dermal papilla cells delays the early stages of hair cycle catagen in mice, revealing potential interactions with Sox18 in regulating hair growth.

In this study, Flii overexpression in mice enhanced fingertip regeneration and nail formation after both distal and proximal amputations, suggesting a role in digit and hair follicle regeneration possibly involving Wnt signaling.

In this study, specific genetic polymorphisms in the KRT71 gene were associated with hairless and curly phenotypes in Sphynx and Devon Rex cats.

This study found that in a transgenic mouse model, a modified form of β-catenin inhibited normal hair follicle development and promoted epidermal cyst formation, revealing distinct effects on Wnt signaling.

This study found that calmodulin 7 (CaM7) inhibits the calcium channel CNGC14 in root hairs, affecting their polar growth by controlling calcium signaling.

This study found that a specific genetic mutation in the Fgf5 gene may contribute to the long-hair trait in Angora rabbits by reducing the binding capacity of the FGF5 protein.

This case study highlights the importance of an integrated diagnostic and treatment approach for children with rare genetic disorders, as demonstrated in a 10-year-old girl with CNOT3 syndrome, characterized by symptoms like mental retardation, gastrointestinal issues, and unique facial features.

This study found that transgenic mice expressing a mutant CYLD protein lacking deubiquitinase function showed signs of premature aging and spontaneous tumor development, likely due to over-activation of specific molecular pathways and chronic inflammation.

This study found that PRC2 plays a crucial role in maintaining intestinal homeostasis by supporting progenitor cell proliferation and limiting secretory lineage differentiation.

This study found that cetaceans have adapted their fibroblast growth factors to assist in low bone density, hypoxia tolerance, and the development of rigid flippers, reflecting significant evolutionary changes for aquatic life.