4 citations
,
January 1976 in “Archives of Dermatological Research” Metabolic disorders can cause hair structure defects and growth issues, but amino acid levels in hair remain normal.
5 citations
,
September 2013 in “The Journal of Dermatology” Researchers found a new mutation in the HR gene causing hair loss and skin bumps in a Pakistani family.
39 citations
,
August 1998 in “FEBS Letters” In this study, researchers identified two novel peptidylarginine deiminases from treated rat keratinocytes, both showing enzyme activity with PAD‐R11 reflecting a characteristic of epidermal enzymes.
October 2025 in “OPAL (Open@LaTrobe) (La Trobe University)” In this case study, a 10-month-old minority infant from Xinjiang, China, with acrodermatitis enteropathy caused by an SLC39A4 gene mutation showed clinical improvement and increased zinc levels following zinc supplementation, highlighting the importance of early genetic testing and customized treatment in managing the disorder.
11 citations
,
December 2017 in “Orphanet Journal of Rare Diseases” This study found a previously unreported ST14 gene mutation in a patient with ichthyosis-hypotrichosis syndrome, highlighting novel skin and hair characteristics and emphasizing the critical role of the Asp482 amino acid in matriptase activation.
April 2024 in “Institutional Repositories DataBase (IRDB)” This study identified 11 previously unreported ABCA12 variants associated with varying severities of autosomal recessive congenital ichthyoses and expanded the phenotype spectrum of ichthyosis linked to these variants.
11 citations
,
January 2011 in “Indian Dermatology Online Journal” This article discusses a proposed molecular mechanism linking dietary factors to acne but reports no new clinical findings.
6 citations
,
January 2013 in “Case reports in endocrinology” This article reviews acromegaloid facial appearance syndrome and presents a case in a 57-year-old woman, emphasizing the need for more cases to understand its clinical features and inheritance patterns.
2 citations
,
September 2015 in “Türk pediatri arşivi : İstanbul çocuk kliniği dergisi” This case study reports on a 23-month-old child who developed onychomadesis after valproic acid treatment, which resolved on its own without further intervention.
1 citations
,
December 2016 in “Revista română de medicină de laborator” This study reported the first case of a NIPAL4 c.527C>A mutation in Romanian patients with autosomal recessive congenital ichthyosis, finding that NIPAL4 mutations are more common than TGM1 mutations in this population.
73 citations
,
July 1977 in “Archives of Dermatology” In this case report, applying linoleic acid topically reversed essential fatty acid deficiency and related skin symptoms in a patient receiving long-term fat-free intravenous nutrition.
29 citations
,
December 1989 in “The journal of nutrition/The Journal of nutrition” This study found that intestinal uptake of pantothenic acid in mice was not affected by dietary levels but may increase slightly in late-stage deficiency, though likely not significantly.
4 citations
,
February 2025 in “Molecular Medicine” In this study, ALA-PDT significantly reduced lipogenesis in an acne-like model by upregulating OLR1 and suppressing lipid accumulation, highlighting a potential therapeutic target.
October 2025 in “OPAL (Open@LaTrobe) (La Trobe University)” This case report describes a 10-month-old minority infant from Xinjiang, China, with acrodermatitis enteropathy due to a SLC39A4 genetic mutation, showing clinical improvement in skin, hair, and zinc levels following zinc supplementation and highlighting the importance of early diagnosis and tailored treatment.
6 citations
,
April 2012 in “PubMed” This case report describes a 33-year-old Indian male with Cronkhite-Canada syndrome who experienced complete symptom recovery within 5 months after starting a high protein diet, proton pump inhibitors, and zinc-vitamin supplements.
July 2025 in “Frontiers in Medicine” This study identified compound heterozygous mutations, c.1101del and c.736 T > A, in the LIPH gene responsible for causing autosomal recessive woolly hair in a child, with c.1101del being a novel frameshift mutation.
109 citations
,
April 1997 in “Journal of Lipid Research” This study found that pure linoleate deficiency in rats caused significant reductions in the accumulation of n-6 polyunsaturates and mild symptoms like growth retardation, compared to classical essential fatty acid deficiency.
5 citations
,
September 2019 in “The Open biomarkers journal” This study found that linoleic acid may help protect against acrylamide toxicity in female albino rats.
12 citations
,
November 2014 in “Bioscience, Biotechnology, and Biochemistry” In this study, the researchers successfully increased dipicolinic acid production in Bacillus subtilis by genetically modifying the spoVF operon, achieving a significant productivity improvement in the culture medium.
September 2008 in “Fertility and Sterility” This study found that in female dogs, exposure to free fatty acids increased androgen production, suggesting a potential link to factors characteristic of polycystic ovary syndrome.
4 citations
,
January 2017 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” This study identified two distinct VDR gene mutations among Lebanese families with hereditary vitamin D-resistant rickets, noting varied treatment responses and promising outcomes despite severe phenotypes.
November 2025 in “Journal of Investigative Dermatology” This study identified nine pathogenic variants in the PADI3 gene and variants in the S100A3 and TCHH genes in patients with central centrifugal cicatricial alopecia, suggesting a broader genetic basis for the disease and potential targets for genetic testing and therapies.
55 citations
,
July 1983 in “Journal of the American Academy of Dermatology” This case study of three siblings highlights the importance of recognizing dermatologic signs—alopecia and periorificial dermatitis—for early diagnosis and treatment of biotin-responsive multiple carboxylase deficiency.
July 2025 in “Journal of Cutaneous Pathology” In this case report, a newborn with Conradi-Hünermann-Happle syndrome was diagnosed through early skin biopsy, which revealed unique histopathological features, including dystrophic calcifications, confirming a pathogenic variant in the EBP gene.
5 citations
,
January 2015 in “Case reports in medicine” 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.
8 citations
,
July 2018 in “Analytical sciences” This study reported that derivatization with 5-butylpicolinic acid improved the sensitivity for detecting testosterone and DHT in saliva using LC-ESI-MS/MS, with minimal interference from the saliva matrix.
43 citations
,
May 1986 in “Clinics in Endocrinology and Metabolism” This review examines androgen status in male and female obesity and its influence on the metabolic syndrome, but reports no new clinical results.
20 citations
,
August 1981 in “Developmental Medicine & Child Neurology” 13 citations
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June 1981 in “Developmental Medicine & Child Neurology” November 2024 in “Journal of Investigative Dermatology” Genetic changes in specific proteins contribute to hair loss in some women of African descent.