12 citations
,
July 2004 in “Molecular genetics and genomics” This study identifies a new mutation in the Scd1 gene in a strain of Kunming mice, causing skin and hair defects with the mildest impact among similar mutations.
62 citations
,
March 2011 in “European journal of endocrinology” This study found that parents identified with cryptic NCCAH through genetic testing are mostly asymptomatic but may experience temporary female infertility and require glucocorticoid stress coverage in specific circumstances.
November 2009 in “Journal of Pediatric Nursing” This case report describes a 6 1/2-year-old girl with significant height growth and early pubic hair development.
July 2026 in “bioRxiv (Cold Spring Harbor Laboratory)” In this study, researchers observed that TCDD exposure in mice enhanced sebaceous gland differentiation and lipid production before causing seboatrophy, providing insights into the cellular events that may contribute to chloracne pathogenesis.
This article presents a collection of 70 multiple choice questions designed to assist haematology and core medical trainees with diagnostic and management skills, but it provides no new clinical findings.
December 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” In this study, 25% of CCHCR1-deficient mice exposed to stress developed hair loss similar to human alopecia areata, suggesting CCHCR1 is a susceptibility gene for the disease.
5 citations
,
October 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified a high-risk allele in the PLCD1 gene associated with hereditary trichilemmal cyst formation, proposing a monoallelic two-hit mechanism as the underlying genetic pathogenesis.
37 citations
,
June 2004 in “Human molecular genetics online/Human molecular genetics” This study suggests that the HCR risk allele within the PSORS1 locus may contribute to psoriasis susceptibility by altering gene expression related to skin structure and differentiation, although these changes alone might not result in clinical symptoms.
March 2023 in “JAAD case reports” This article reviews the genetic foundations of keratins in maintaining epithelial tissue integrity and links specific keratin variants to diverse ichthyosis forms, without presenting new clinical findings.
33 citations
,
August 2000 in “Experimental Cell Research” 2 citations
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July 2022 in “Frontiers in Veterinary Science” This case report describes a rare instance of a Chinese Crested dog with leukocyte chimerism, normal female external genitalia, and hormonally active Sertoli cell tumors, demonstrating surgery as a curative treatment option.
July 2017 in “Contemporary Endocrinology” This article discusses the ongoing care needs for individuals with 21-hydroxylase deficiency due to mutations in the CYP21A2 gene but does not present new clinical findings.
11 citations
,
March 2014 in “Journal of Investigative Dermatology” In this study, basal cell carcinoma developed in Ptch-deficient mice only after chemical treatment, not skin wounding, suggesting a second unknown event is necessary for tumor formation.
1 citations
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October 2022 in “Curēus” This case report highlights the challenges in diagnosing simple-virilizing congenital adrenal hyperplasia, emphasizing the importance of early expert evaluation to prevent irreversible changes such as virilization.
October 2024 in “Journal of the Endocrine Society” This study examined uncharacterized CYP21A2 gene variants related to non-classic congenital adrenal hyperplasia and found that several mutations reduce enzyme activity, which may help improve diagnostic and treatment strategies.
27 citations
,
May 2011 in “Journal of Investigative Dermatology” TCHHL1 is a protein important for hair growth, found in hair follicles.
10 citations
,
January 2013 in “Stem Cells and Development” This study suggests that dermal stem/progenitor cells can be enriched by intracellular granularity and display high proliferation and differentiation potential in vitro, distinguishing them from other fibroblasts and progenitors.
56 citations
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December 2011 in “Steroids” This review discusses the genetics and variable phenotypic expression of nonclassic congenital adrenal hyperplasia, and reports no new clinical results; the authors call for further research on long-term health impacts and treatment strategies.
15 citations
,
January 2012 in “International journal of trichology” This study found that the HairCheck® device, demonstrating high correlation between its Hair Mass Index and hair characteristics such as strand number and diameter, may be an effective tool for assessing hair mass changes in alopecia patients.
52 citations
,
March 2007 in “Dermatologic Therapy” This article describes the development and validation of a standardized instrument for measuring skin involvement in cutaneous lupus erythematosus, aiming to aid future clinical research and trials.
January 2025 in “Cell Communication and Signaling” This study reviews the role of the zinc finger protein CXXC5 in cellular signaling and its implications for cancer, discussing how its dysregulation is linked to various physiological and pathological processes, as well as potential therapies targeting CXXC5.
7 citations
,
October 1985 in “Genetics Research” This study found that in chimaeric mice models, the pigment distribution and pattern were influenced by the sash genotype, demonstrating the melanocyte-autonomous nature of the beige and leaden loci.
1 citations
,
August 1983 in “PubMed” This study reported that VCP combination chemotherapy achieved a complete response in 53% of advanced non-Hodgkin's lymphoma patients, although more intensive treatment may be needed for improved outcomes.
June 2020 in “Journal of Investigative Dermatology” Hair shaft malformation contributes to Central Centrifugal Cicatricial Alopecia.
3 citations
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January 2013 in “Journal of cosmetics, dermatological sciences and applications” This study found that the new HCC additive enhances the permeation of pigments and active ingredients into hair, suggesting potential use in developing functional cosmetic hair products.
January 2017 in “International journal of biomedical engineering and clinical science” This case report describes significant skin and oral mucosa lesions in a 19-year-old patient with cri-du-chat syndrome, highlighting their impact on her nutritional status and quality of life.
This section presents 70 multiple choice questions designed for haematology specialist trainees, covering complex clinical cases and their likely diagnoses, adverse events, and management advice.
7 citations
,
November 2017 in “Cureus” This report introduces a new potential sign, paired ear creases of the helix, which may have relevance to cardiovascular disease similar to diagonal ear lobe creases, in a case of coronary artery disease.
88 citations
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April 2017 in “Journal of Pediatric and Adolescent Gynecology” This review discusses the pathophysiology, diagnosis, and treatment of congenital adrenal hyperplasia, but reports no new research results.
66 citations
,
October 2002 in “Human molecular genetics online/Human molecular genetics” This study found that a nonsense mutation in the Cst6 gene of mice leads to severe skin and hair abnormalities, suggesting that cystatin M/E is crucial for epidermal function and viability.