14 citations
,
August 2022 in “Lupus Science & Medicine” This study found two patterns of Type 2 SLE symptoms: Intermittent symptoms resolving with Type 1 symptom remission and Persistent symptoms continuing regardless of Type 1 symptom activity.
14 citations
,
September 2018 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” In this study, a novel homozygous mutation in the STAT5B gene was identified in a 17-year-old boy with growth hormone-refractory growth failure, severe eczema, and autoimmune disease, suggesting a similarity to known STAT5B deficiency phenotypes.
14 citations
,
January 2018 in “Endocrine” This report describes a three-generation family with Cantú syndrome linked to a novel ABCC9 gene variant, featuring acromegaloid appearance and hypertrichosis without growth hormone abnormalities, and suggests a potential association with pituitary adenomas.
12 citations
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February 2007 in “Facial Plastic Surgery” This review discusses advancements in surgical hair restoration techniques, highlighting that modern follicular unit hair transplanting now achieves much more natural and undetectable results than previous methods, but reports no new clinical findings.
11 citations
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January 2020 in “BMC pediatrics” This case report identified two new SLC39A4 mutations in twin patients with acrodermatitis enteropathica, suggesting that different mutations in this gene may lead to varying clinical manifestations of the disorder.
10 citations
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November 2017 in “Journal of Investigative Dermatology” In this study, researchers identified a novel homozygous variant in the FAM83G gene responsible for autosomal recessively inherited palmoplantar keratoderma with curly hair in a consanguineous Pakistani family, suggesting FAM83G plays a crucial role in skin and hair homeostasis.
10 citations
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September 2015 in “PLoS ONE” This case report documents a female toddler with novel compound heterozygous mutations in the VDR gene causing hereditary 1,25-dihydroxyvitamin D-resistant rickets, expanding the known mutation spectrum for this disease.
10 citations
,
February 2010 in “Journal of Dermatological Treatment” This review discusses the history, strengths, and weaknesses of dermatology podcasts and provides no new results, advocating for more involvement from prestigious journals and institutions in creating evidence-based content.
9 citations
,
March 2018 in “European journal of dermatology/EJD. European journal of dermatology” This study in a Pakistani family identified a novel ST14 gene variant as the likely genetic cause of autosomal recessive ichthyosis with hypotrichosis syndrome.
8 citations
,
December 2020 in “Scientific reports” This study examined the genetic basis for the curly hair trait in Mangalitza pigs, finding two specific genetic variants that contribute to this distinctive phenotype through autosomal dominant inheritance.
6 citations
,
August 2020 in “JCRPE” This report presents a case of familial male-limited precocious puberty with a novel LHCGR gene mutation, where a boy responded well to treatment with bicalutamide and anastrozole.
6 citations
,
November 2011 in “Journal of Dermatological Science” A new gene mutation may allow some piebaldism patients to regain skin color in white patches.
6 citations
,
October 2011 in “International Journal of Pharmaceutical Sciences and Drug Research” This study investigates the pharmacognostic properties of jojoba roots, focusing on microscopic characteristics, physico-chemical constants, fluorescence analysis, and preliminary phytochemical evaluation, but it does not report new clinical findings.
5 citations
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March 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that Piezo2 channels are primarily located on sensory axon membranes in mechanosensory end organs, supporting a model where mechanical stimuli activate Aβ RA-LTMR neurons via axon protrusions.
4 citations
,
February 2018 in “Jurnal teknologi” This study found that Kaempferia galanga ethanolic extract has potential as an antifungal agent in an oil-in-water cream formulation, exhibiting stable physicochemical properties in laboratory tests.
3 citations
,
June 2022 in “European journal of human genetics” This study reports the first cases of recessive KRT17-related pachyonychia congenita involving all ectodermal derivatives in seven members of two consanguineous Pakistani families.
3 citations
,
February 2020 in “The journal of gene medicine” This study found a recurrent nonsense mutation in the HR gene linked to atrichia with papular lesions in two Kashmiri families, suggesting whole exome sequencing as an efficient method for diagnosis and genetic counseling.
3 citations
,
September 2019 in “PLOS ONE” In this study, the authors identified the DHRS9 SNP rs72623193 as most significantly associated with response to dutasteride in treating male pattern hair loss, with additional variants potentially contributing.
2 citations
,
September 2024 in “Aesthetic Plastic Surgery” This abstract provides guidance on where to find authors' assigned levels of evidence for articles in the journal, but it does not report any research findings from a specific study.
2 citations
,
March 2024 in “International Journal of experimental research and review” This study found that more than 14% of idiopathic recurrent early pregnancy loss cases were associated with chromosomal heteromorphisms, predominantly 9qh+, suggesting a genetic component in these unexplained cases.
2 citations
,
September 2022 In this study, researchers found that a PER3 gene SNP may be pathogenic for a new subtype of dyschromatosis universalis hereditaria, especially when combined with a SASH1 mutation.
2 citations
,
August 2020 in “JCRPE” This case report describes a girl with Denys-Drash syndrome misdiagnosed with hyperandrogenism due to biotin interference in immunoassays, highlighting the need for awareness of laboratory result discrepancies.
1 citations
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April 2024 in “International Research Journal of Modernization in Engineering Technology and Science” This study aimed to create an herbal shampoo that effectively removes oil, dirt, and dandruff while enhancing hair thickness, growth, and blackness, without causing side effects like conventional cosmetic shampoos can. Results are not reported.
1 citations
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January 2023 in “IEEE access” This review examines advancements in deep learning methods for detecting dermatological conditions from dermoscopic images, summarizing available datasets and suggesting future research directions, but reports no new results.
1 citations
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January 2013 This review examines the design and evaluation parameters of depilatory formulations but reports no new empirical findings.
February 2026 in “Orphanet Journal of Rare Diseases” This study identified pathogenic or likely pathogenic gene variants in 70.1% of Russian families affected by hypohidrotic ectodermal dysplasia, expanding knowledge of causative mutations.
November 2025 in “International Journal of Zoology and Applied Biosciences” In this review, recent innovations in hair transplantation, such as AI-assisted graft selection, robotic systems, stem cell therapy, and advanced drug delivery techniques, are reported to enhance hair density and thickness for more natural results and higher patient satisfaction by addressing limitations of traditional methods.
November 2025 in “Clinical Cosmetic and Investigational Dermatology” LIPH mutations cause woolly hair in some Chinese people.
May 2024 in “Frontiers in medicine” In this study, a 3-year-old Japanese child with autosomal recessive woolly hair was found to have a distinctive irregular and rough cuticle on the hair shaft, along with a homozygous pathogenic LIPH variant, suggesting a critical role for genetic analysis in understanding rare hair conditions.
April 2024 in “Frontiers in pharmacology” This review of Cynoglossum amabile, a traditional Chinese and ethnomedicine, provides insights into its uses, chemical components, biological activities, and toxicity. Highlighting its market potential, the study underscores the importance of indigenous knowledge in drug development despite noted hepatotoxic risk linked to its pyrrolizidine alkaloids.