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In this case report, a novel missense mutation c.1360G>C (p.Ala454Pro) in the MBTPS2 gene was identified in a boy with typical IFAP syndrome and severe atopic features, although no phenotype/genotype correlation was established.

This study concludes that dietary L-serine supplementation shows promise as a long-term therapy for hereditary sensory and autonomic neuropathy type 1, reducing neurotoxic 1-deoxysphingolipid levels and improving symptoms in severe cases.

This study found that the L457(3.43)R mutation in the human luteinizing hormone receptor increases phosphodiesterase activity, reducing hormonal response despite elevated basal cAMP levels.

This study reports the first case of atrichia with papular lesions in a Taiwanese family without a detectable mutation in the HR gene.

This study found that Diphenylcyclopropenone (DCP) was effective for treating extensive alopecia areata in Thai patients, although a high relapse rate suggests maintenance therapy might be necessary.

This study found that RALF peptides, through liquid-liquid phase separation, form condensates with pectin and other proteins, playing a pivotal role in plant development and stress response regulation.

This article reviews evidence- and consensus-based recommendations for using pegvaliase in adults with PKU and reports no new clinical results.

In this study, genetic variation in the CYP19A1 gene, particularly the common rs4646 C allele, was associated with an increased risk of female pattern hair loss, especially in women under 40.

This study found that the rs3185480 polymorphism in the APCDD1 gene was associated with an elevated risk of developing androgenic alopecia and reduced protein levels, potentially due to altered codon usage affecting translation efficiency.

This study suggests a potential genetic component in CFA among Ridgeback dogs, but MLPH genotyping did not identify the MLPH gene as a contributing factor.

This study found widespread localization of parathyroid hormone-related protein in normal and cancerous canine tissues, suggesting a potential physiological role as a paracrine or autocrine factor.

This study found that home-use diphenylcyclopropenone (H-DPCP) is a cost-effective alternative to office-use for severe alopecia areata, showing similar effectiveness with reduced costs.

This study found that acid and alkaline phosphatases serve different functions in Beagle dog skin, with ALP primarily involved in growth processes and ACP in phospholipid breakdown.

In this study, researchers observed that alopecia areata patients showed higher Th1 and Th2 responses against specific melanogenesis-related protein epitopes, suggesting a role in disease activity and potential targets for diagnostics and therapies.

This study found that a 671-base pair promoter sequence from the ultra-high-sulfur keratin gene is sufficient to direct tissue-specific and development-specific expression of a reporter gene during hair growth in transgenic mice.

This report discusses the accurate diagnosis of atrichia with papular lesions, emphasizing its distinction from alopecia universalis to prevent unnecessary steroid treatment, and presents a case matching APL diagnostic criteria.

This study found that hyperpigmentation following contact immunotherapy for severe alopecia areata may indicate poor treatment responsiveness and aligns with characteristics of pigmented contact dermatitis.

In this study, researchers found that mosaic PLCD1 hotspot variants, even without the recognized germline "risk allele," may be a rare but significant genetic cause of nevus trichilemmocysticus, warranting DNA testing and sensitive sequencing technologies for accurate diagnosis.

This study found that diphenylcyclopropenone therapy resulted in over 50% hair regrowth in 71% of alopecia totalis patients, with a significant relapse association with thyroid disease, suggesting treatment could be viable but should continue for at least two years.

In this study, researchers found that a PER3 gene SNP may be pathogenic for a new subtype of dyschromatosis universalis hereditaria, especially when combined with a SASH1 mutation.

This study reviewed existing articles to assess the efficacy of topical diphenylcyclopropenone immunotherapy for alopecia areata, but it did not report new clinical results.

This review discusses the essential roles and complex regulation of PP2A in various physiological processes and reports no clinical results; the authors highlight the need for further mouse model research to explore PP2A's therapeutic potential.

This study suggests that paeoniflorin's protective effects on brain astrocytes may be mediated by TSPO and neurosteroids biosynthesis.

This study observed that the rs231775 CTLA4 genetic variant was more prevalent in Alopecia Areata patients than controls, particularly among those with severe disease.

This study identified a specific LIPH gene mutation (736T>A) as common in Japanese patients with autosomal recessive woolly hair/hypotrichosis, potentially indicating its role in the condition's manifestation within this population.

This study found that 5-aminolevulinic acid significantly improved chicken sperm motility and increased mitochondrial membrane depolarization, while decreasing ATP levels.

This case report presents a rare subtype of hypomyelinating leukodystrophy linked to a PYCR2 gene mutation, emphasizing exome sequencing's value in diagnosing undiagnosed childhood HLDs with atypical symptoms.

This study found that diphenylcyclopropenone (DPCP) was more effective and better tolerated than dinitrochlorobenzene (DNCB) in promoting hair regrowth in patients with alopecia areata.

This study identified ten compounds from Eclipta prostrata, with some displaying potent inhibitory effects against α-glucosidase and acetylcholinesterase enzymes.

This study found that low-dose topical alpha-terthienyl combined with UVA radiation can induce cutaneous photosensitization in guinea pigs, suggesting a possible photochemotherapy approach for skin diseases like psoriasis.