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In this study, a novel DCAF17 gene mutation was identified in a Chinese family, suggesting a potential role in pancreatic β cell dysfunction and diabetes development in Woodhouse-Sakati syndrome.

A gene called APCDD1, which controls hair growth, is found to be faulty in a type of hair loss called hereditary hypotrichosis simplex.

This review discusses central centrifugal cicatricial alopecia and emphasizes the need for more research to understand and manage the disease, while also suggesting initiatives like educating hairstylists for early detection.

In this study, researchers found that the "U" allele of the Tru9I variant may be associated with low vitamin D levels and altered VDR gene activity in alopecia areata patients, while the "u" allele might have a protective role against developing the condition.

This study found that the 3' UTR of JAM-A acts as a key competing endogenous RNA that supports dermal papilla cell function and hair follicle regeneration in alopecia areata.

This study explored the genetic basis of fiber diameter in alpacas, identifying candidate genomic regions including four significant areas on VPA6, VPA9, VPA29, and an unassigned scaffold, using whole genome association analysis and a custom SNP microarray.

This study suggests that the DNMT3B -579 G>T polymorphism may be a genetic risk factor for colorectal cancer in the Azerbaijani population.

This article describes a rare case of alopecia with both scarring and non-scarring features, combining histologic signs of central centrifugal cicatricial alopecia with select immunologic features of alopecia areata.

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.

This study in a nine-year-old boy from Lebanon identified a gene mutation (c.1066dup p.(Arg356Profs*16)) associated with a rare inborn error of immunity, characterized by craniosynostosis, jaundice, and several other symptoms, expanding the known genotypic and phenotypic spectrum of this condition.

In this study, researchers identified a recurrent MBTPS2 splice-site variant as a mutational hotspot in IFAP syndrome across diverse families, with phenotype severity suggesting the influence of additional modifiers.

This case report describes a 57-year-old man's late diagnosis of X-linked adrenoleukodystrophy, highlighting the need to consider this condition in patients with non-autoimmune primary adrenal insufficiency and neurological issues.

This study identified a new variety of central centrifugal cicatricial alopecia that includes patchy hair loss on the lateral and posterior scalp in African-American women, which could be misdiagnosed as traction alopecia without dermatoscopy and pathology.

Patients with central centrifugal cicatricial alopecia may have a higher risk of breast and colorectal cancer.

In this study, researchers found that circERCC6, a circular RNA identified in cashmere goat hair follicles, helps activate secondary hair follicle stem cells, with its role dependent on specific m6A modifications that interact with miR-412-3p to regulate BNC2 expression.

This study found that the Arabidopsis cation chloride cotransporter (CCC1) is crucial for regulating pH and processes in the trans-Golgi-network/early endosome, impacting plant growth and stress responses.

This review discusses the potential role of a PADI3 gene variant in central centrifugal cicatricial alopecia among African-American women but reports no new clinical results.

In this study, the researchers identified a variant in the CCHCR1 gene associated with an alopecia areata subtype characterized by impaired keratinization and autoimmune events.

This case report highlights that CCCA can present with multifocal patchy hair loss in younger men of African descent, suggesting the need for careful evaluation when diagnosing atypical alopecia patterns.

This study identified a specific genetic variant in the CCHCR1 gene that may contribute to alopecia areata through impaired keratinization, suggesting an alternative mechanism beyond autoimmune causes.

In this study, researchers generated a mouse mutation called scraggly, related to hair and skin defects, and mapped it to a genetic location on mouse Chromosome 19 distinct from similar mutations.

In this study, CCCA patients were found to have higher odds of metabolic, autoimmune, atopic, and psychiatric comorbidities compared to matched controls.

This report identifies a novel splice-site variant in the LAMB3 gene linked to junctional epidermolysis bullosa, emphasizing the need for gene sequencing in diagnosing the disease.

This study reported that an HS-associated NCSTN mutation in iPSC-derived skin organoids led to altered hair follicle stem cell differentiation and increased expression of proteins linked to HS inflammation.

This study found that misexpression of Hoxc8 in mice led to ectopic mammary development and suggests Hox genes may play crucial roles in the regional specification and initiation of cutaneous accessory organs.

This article reviews central centrifugal cicatricial alopecia, particularly in women of African descent, and explains its progression and symptoms but provides no new clinical findings.

This report identified three novel genetic mutations associated with congenital ichthyosis in Italian newborns and emphasized the importance of next-generation sequencing for personalized patient management.

This article reviews central centrifugal cicatricial alopecia, including its various forms and potential multifactorial causes, but provides no new clinical findings.