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This study identified specific genes that are more abundantly expressed in black hair than in gray hair, with black hair displaying higher expression of pigment-related proteins and gray hair showing increased expression of keratin-related genes.

This study identified a new clinical variant of adult adrenomyeloneuropathy characterized by hypoplasia and agenesis of the corpus callosum, associated with a novel ABCD1 gene mutation.

This source discusses ichthyosis, a disorder causing dry, scaly skin, by exploring its genetic causes, potential systemic associations, and treatments, and correlates modern medical insights with Unani medicine principles focused on humoral balance and holistic care.

This review discusses how targeting protein degradation processes may help overcome cancer drug resistance, but reports no new clinical results and suggests further research for precise therapeutic strategies.

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.

In this study, bovine milk-derived oligosaccharides were found to increase sebocyte proliferation, lipid content, and inflammatory mediator synthesis through the mTORC1 pathway, potentially contributing to milk-based inflammation in sebocytes.

In this study, two unrelated Honduran patients with Sjögren-Larsson syndrome had the same genetic mutation but displayed different disease severities, suggesting that factors beyond the ALDH3A2 mutation influence clinical outcome.

This study identified mutations in the STUB1 gene linked to hereditary cerebellar ataxia with cognitive impairment, revealing potential effects on protein function and patient symptoms, including accelerated aging.

This case report describes the first confirmed instances of X-linked adrenomyeloneuropathy/adrenoleukodystrophy in two brothers from Bangladesh, noting their progressive neurological symptoms, MRI findings, and differing disease outcomes over several years of observation.

This report highlights a case of adrenoleukodystrophy, a rare disease, diagnosed in a young boy with neuropsychiatric symptoms and Addison's disease, stressing the importance of early diagnosis and genetic counseling.

In this case report, researchers identified Vitamin A toxicity as the cause of refractory hypercalcemia in a nonverbal patient, emphasizing the difficulty of diagnosing this rare condition due to its nonspecific symptoms.

The researchers reported that autophagy, a lysosome-dependent degradation mechanism, plays a significant role in the cellular remodeling of keratinocyte differentiation in the skin, affecting the properties of the differentiation products by altering cellular components during this process.

This study identified a splicing-site deletion in the DCAF17 gene associated with Woodhouse-Sakati syndrome in a large consanguineous pedigree, leading to typical phenotypic features.

This study found that mutations in the TULP3 gene are associated with progressive degeneration of the liver, kidney, and heart in adults, highlighting the importance of early detection and management.

This study reports a novel mutation in the TP63 gene associated with T and B cell lymphopenia in an EEC patient, suggesting that EEC diagnosis should include TREC assay and evaluation for immunodeficiency.

This review discusses various forms of ichthyosis, including genetic and acquired types, detailing their characteristics, causes, and potential management strategies, but reports no new clinical results.

This study found that men with adrenomyeloneuropathy often experience diffuse hair loss and severe male-pattern baldness, potentially due to the X-linked ALD mutation's role in androgenetic alopecia's genetic spectrum.

The document explains the genetic causes and characteristics of inherited hair disorders.

This article offers HTML content and a downloadable PDF but does not provide an abstract or new findings for summary.

This case report describes a 33-year-old Kashmiri woman with Woodhouse-Sakati syndrome who has a rare DCAF17 gene mutation, c.321+1G>A, providing further evidence for its role in the genetic basis of this neuroendocrine disorder.

This article discusses Kennedy's disease, detailing its genetic cause, symptoms, and diagnostic criteria, but reports no new clinical findings and highlights a lack of causal therapy.

This review discusses various rare syndromes associated with ichthyosis and emphasizes the importance of understanding their molecular genetics and mechanisms for developing effective treatments and genetic counseling, but it reports no new clinical findings.

This review discusses the topical use of systemic drugs for cutaneous disorders and reports a lack of strong evidence from randomized controlled trials, highlighting the need for larger comparative effectiveness studies.

This index of Harper's Textbook of Pediatric Dermatology, Fourth Edition, provides no clinical results or new findings.

In this study, researchers demonstrated that the Id2 gene acts as a direct target and effector of BMP signaling, playing a key role in maintaining quiescence in hair follicle stem cells in vivo.

This study found that a single dose of TRP significantly reduced the number of UV-B-induced actinic keratosis lesions in a mouse model and was associated with improved skin histology and minimal side effects.

This study observed that a 3D culture model of hair follicle cells showed an anagen-like phase between days 3 to 6 and transitioned to a catagen-like phase by day 7, highlighting cell differentiation and structural development over time.

This study found a statistically significant increase in glycosylated hemoglobins among patients with adult-acquired panhypopituitarism undergoing long-term GH replacement therapy, with two developing diabetes requiring treatment.

This study found that anagen hair follicles can quickly regenerate after radiation damage by forming new progenitor cells outside the bulge, bypassing the need for telogen entry.

This article reviews the therapeutic potential of potassium channel openers for various conditions related to metabolic distress but does not report new clinical results; it emphasizes the need for further research.