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This study describes a Japanese family with monilethrix and found no clear genotype/phenotype correlation in cases with the E413K mutation in hHb6.

This study in a Pakistani family identified a novel ST14 gene variant as the likely genetic cause of autosomal recessive ichthyosis with hypotrichosis syndrome.

This study identified specific genetic variants as the cause of visual impairment and non-syndromic alopecia in two brothers, reinforcing the link between PDE6H variants and achromatopsia and LPAR6 variants and alopecia.

This study identified a novel mutation in the coproporphyrinogen oxidase gene, contributing to hereditary coproporphyria in a family, with decreased enzyme activity observed in the affected members.

This study described a Scottish family with hidrotic ectodermal dysplasia featuring variable symptoms such as hypo/oligodontia, thin hair, and heat tolerance, and concluded they exhibited overlapping traits with Clouston syndrome.

Alopecia areata greatly affects the quality of life for children and their families.

This study found that while GPT-4 shows high accuracy and efficiency in clinical decision making, physicians' critical thinking and lifelong learning skills remain essential, particularly in addressing and interpreting AI errors in medical settings.

This study identified eight mutations in five genes associated with different aspects of ichthyosis among Tunisian patients, enhancing understanding of its genetic and clinical diversity.

In this study, researchers identified a novel STS gene (c.287G > A; p.W96*) mutation in Pakistani individuals with X-linked ichthyosis, expanding the understanding of its genetic causes and aiding in genetic counseling.

This review discusses the role of Ysc84/SH3yl1 proteins in linking actin regulation to membrane morphology changes but reports no new experimental results.

This article discusses monilethrix, a rare human hair dysplasia caused by mutations in hair keratins, but reports no new clinical findings.

This study assessed hair whorl characteristics in domestic dogs and found that simple whorls predominate, with tufted whorls more common in specific regions like elbows and chests, influenced by factors such as coat traits and source.

This study found that a mutation in the seventh exon of the KRT86 gene plays a major role in the pathogenesis of monilethrix in a Chinese family.

In this study, researchers identified an autosomal dominant mutation (E402K) in exon 7 of the KRT86 gene as a cause of Monilethrix in a large family from Turkey.

This study identified three genes in the ovine KAP13 family on chromosome 1 and found that a specific allele of KRTAP13-2 is associated with improved wool fibre diameter uniformity in Chinese Tan sheep, suggesting its potential use as a marker for enhancing wool traits.

This study is the first to identify a de novo heterozygous frameshift insertion variant in the ARID1B gene as a cause of Coffin-Siris syndrome with an association to excessive early-onset high myopia.

This letter to the editor discusses the natural course of epidermolysis bullosa simplex with mottled pigmentation in a Japanese family but does not present new clinical results.

This study identified novel compound heterozygous mutations in the hairless gene among a non-consanguineous Chinese family with congenital atrichia, illustrating phenotypic variations due to founder or modifier genes.

In this study, a novel heterozygous transition mutation in the KRT86 gene was identified, which may be pathogenic for monilethrix in a Chinese family.

This study strongly suggests that a distinct form of hereditary localized alopecia in a Chinese family is linked to a novel locus on chromosome 2p25.1–2p23.2.

This report suggests a potential link between hyperprolactinemia and alopecia in women with autoimmune thyroid disease and emphasizes the importance of considering other causes in diagnosis.

This case report describes a new family with autosomal recessive hypotrichosis simplex with woolly hair, suggesting the disorder may be underreported due to misdiagnosis.

In this case report, a three-generation family with Gorlin-Goltz syndrome showed a heterozygous PTCH1 splice-donor variant associated with the disease, and two affected relatives benefited from individualized, side-effect-guided dosing of the drug sonidegib, experiencing regression of basal cell carcinoma lesions.

This study suggests that Enterococcus faecium fermentation broth may have anti-aging effects in mice, mainly through modulating gut microbiota and enhancing immunity, with the key component NlpC/P60 potentially boosting host immune responses and increasing beneficial bacterial populations.

This study identified novel genetic variations in the KRTAP22-2 gene among eight sheep breeds but found no association between these genotypes and wool fibre traits, indicating possible species-specific differences compared to goats.

In this study, the researchers reconstructed Abraham's family pedigree from the Bible's book of Genesis to explore potential medical or genetic explanations for reported cases of familial infertility, linking historical accounts with plausible scientific reasoning.

This study observed that men with a family history of PCOS had lower median sperm concentration and higher rates of alopecia and gynecomastia compared to those without such a family history.

This case report describes a girl with familial adenomatous polyposis who exhibited heterosexual precocious puberty due to an adrenal tumor secreting cortisol and androgens; after her adrenalectomy, her hormone levels normalized and symptoms improved, illustrating the link between genetic syndromes and endocrine disorders.

In this study, researchers identified a recurrent nonsense mutation, c.409C>T (p.Arg137*), in the COL7A1 gene through whole exome sequencing in a family with autosomal recessive dystrophic epidermolysis bullosa, demonstrating the importance of this method for diagnosing genetically complex conditions.

This study investigated the expression of KRTAP6 gene family in Gansu Alpine fine-wool sheep, finding significant expression during the anagen phase and a negative correlation between KRTAP6-1 and KRTAP6-5 expressions with wool fiber diameter and strength.