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This study suggests that folliculin, mutated in Birt–Hogg–Dubé syndrome, and its partner FNIP1 may play a role in energy and nutrient sensing through the AMPK and mTOR pathways.

This article discusses the history and understanding of Tay syndrome, recognizing it as a distinct condition related to ichthyotic erythroderma, mental retardation, and brittle hair but reports no new clinical results.

This review summarizes recent research on the molecular properties and functions of L-PGDS and PGD2, but reports no new findings, highlighting their pathophysiological roles and guiding future studies.

This study engineered a bioluminescent yeast strain responsive to androgenic chemicals, demonstrating rapid and sensitive detection suitable for high-throughput screening and environmental monitoring.

This study generated a Dct-H2BGFP mouse model that allows for effective identification and isolation of melanocytic cells in vivo, facilitating research into their molecular and biological properties.

CD206+ macrophages are crucial for hair growth in alopecia areata treatment.

This study suggests that hemoglobin α expression in the epidermis is induced by oxidative stress and may function as an antioxidant, contributing to skin barrier function.

HDAC1 is crucial for skin development and preventing tumors.

Researchers found a new area on chromosome 2 linked to a genetic hair loss condition.

This review discusses biotinidase deficiency, noting that biotin treatment from birth can prevent symptoms, but acknowledges the complexity and need for further understanding due to late-onset cases with varied clinical findings.

This study reports that a lower 2D:4D finger length ratio is significantly associated with higher disease activity and reduced spinal mobility in females with ankylosing spondylitis, but not in males.

This article discusses the pulmonary manifestations of Birt-Hogg-Dubé syndrome, noting diagnostic challenges in differentiating it from other lung conditions, and underlines the need for further research on folliculin's role in cyst formation.

Hair differentiation starts earlier than thought, involving multiple type-II keratins.

This study found that betulinic acid inhibits hepatitis C virus replication by suppressing the NF-κB- and ERK1/2-mediated COX-2 pathway, suggesting its potential as a therapeutic supplement.

This case study reports on a rare form of vitamin D resistant rickets in a 37-year-old male, highlighting the condition's clinical features and the necessity for a thorough understanding of calcium and vitamin D metabolism in the diagnosis and management of metabolic bone diseases.

In this case report, a newborn with Conradi-Hünermann-Happle syndrome was diagnosed through early skin biopsy, which revealed unique histopathological features, including dystrophic calcifications, confirming a pathogenic variant in the EBP gene.

This case study reported that growth hormone therapy dramatically improved rickets symptoms and growth in three children with vitamin-D dependent rickets type 2 who had not responded to standard treatments.

Farudodstat may effectively treat alopecia areata without harmful side effects.

This study found that CD2 could be a potential new therapeutic target for treating patchy-type alopecia areata, suggesting the need for further research into its role.

This study found that Hataedock may alleviate atopic dermatitis symptoms in mice by maintaining skin homeostasis and improving skin barrier formation through the endocannabinoid system.

In this study using rabbits, HA2 hydrogels made from cross-linked hyaluronic acid and polysaccharide promoted wound healing better than other treatments, reducing inflammation and scar formation.

In this clinical case report, a man with Birt Hogg Dube syndrome presented with parathyroid cancer, the first such case according to the authors, highlighting a potential link between Folliculin gene mutations and parathyroid cancer development.

This study mapped a spontaneous mouse hair mutation, "hague," to keratin genes on chromosome 15 but found no gene mutations in hague mice.

This study found that inhibiting class I histone deacetylases in postnatal mouse dermal cells preserved their ability to induce hair follicles during culture by increasing specific gene expressions and activating the Wnt signaling pathway.

A common mutation in the hHb6 gene is linked to monilethrix, but other factors may also play a role.

This study suggests that the activation of box A in mesenchymal cell models may enhance stem cell properties, increasing the expression of stemness markers like OCT4, NANOG, and SOX2.

This study found that VEGFR-2 activation may play a role in hair follicle differentiation, proliferation, and apoptosis by co-expressing with several key proteins in normal human scalp skin.

This study found that the hairless gene product (Hr) suppresses VDR-mediated gene activation by directly interacting with the vitamin D receptor, potentially affecting hair follicle function.

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 case study reports that a heterozygous missense GJA1 mutation, p.Gly138Ser, in a 2-year-old boy with oculodentodigital syndrome primarily resulted in syndactyly, fifth finger hypoplasia, and hypotrichosis, without neurological or craniofacial abnormalities.