January 2018 in “Springer eBooks” Terbinafine is the most effective medicine for fungal nail infections, especially for diabetics and those with weak immune systems.
13 citations
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June 2012 in “European journal of medical genetics” In this study, researchers observed monochorionic diamniotic twins with discordant clinical phenotypes, where one had high-grade trisomy 12p mosaicism in certain tissues, while the other showed confined mosaicism likely due to twin-to-twin transfusion.
August 2025 in “American Journal of Dermatopathology” In this study, researchers presented cases of cellular neurothekeoma in three male family members with early-onset in infancy, suggesting a potential genetic component and inheritance pattern, which deviates from the typical presentation seen mostly in women between 20–30 years.
112 citations
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August 2012 in “The American Journal of Human Genetics” In this study, two unique mutations in the RBPJ gene were identified and linked to Adams-Oliver syndrome, confirming impaired DNA binding of mutated RBPJ as a factor in this rare genetic disorder.
12 citations
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September 2017 in “JDR Clinical & Translational Research” In this study, researchers observed that the success of treating hereditary vitamin D–resistant rickets in children depends on the mutation location in the VDR gene, notably with favorable dental development outcomes for those with the p.R391S mutation, despite persistent alopecia.
3 citations
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January 2014 in “Indian dermatology online journal” This case report describes a 10-day-old female with aplasia cutis congenita, presenting with two spontaneously healing ulcers on her buttock and no associated abnormalities.
August 2025 in “Journal of Association of Clinical Endocrinologist and Diabetologist of Bangladesh” This article reviews the challenges in diagnosing and treating adolescent PCOS and suggests that the SPIOMET therapy could be promising, though further studies are needed.
August 2025 in “Dermatopathology” This study identified 96 cases of pilomatricomas linked to genetic syndromes, including a novel association with Apert syndrome, highlighting that these tumors often manifest as the first indication of underlying conditions in pediatric patients.
78 citations
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January 2013 in “Dermatology Online Journal” This review discusses various diseases associated with hidradenitis suppurativa, including obesity, arthritis, and pyoderma gangrenosum, but reports no new clinical results and calls for further research.
69 citations
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January 2021 in “Journal of Biological Chemistry” This review discusses various amino acid-derived plant defensive compounds and highlights their potential as drug leads due to their potent antimicrobial properties, but reports no new experimental results.
21 citations
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May 2024 in “American Journal of Medical Genetics Part A” This study observed that among patients with Myhre syndrome, those with the SMAD4 gene variant p.Arg496Cys experienced fewer symptoms like hearing loss, while those with the p.Ile500Thr variant often had severe aortic hypoplasia, highlighting the diverse symptom progression and genetic factors of this rare condition.
7 citations
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March 2025 in “Free Radical Biology and Medicine” This study discusses how redox imbalance, specifically through reduced Insulin-like Growth Factor-1 mediated by the transcription factor JunB and sphingolipid metabolism changes, contributes to skin aging by depleting stem cell pools and altering the extracellular matrix, ultimately impacting skin integrity and function.
3 citations
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September 2021 in “Data in brief” This study observed that bleaching brown human hair with persulfate salts and hydrogen peroxide induced significant conformational changes in keratin, particularly affecting disulfide bridges and oxidized sulfur species, which may inform the development of hair restorative treatments.
2 citations
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September 2025 in “Future Journal of Pharmaceutical Sciences” This study reviewed the potential of Lupeol, a natural triterpenoid, in promoting hair growth and reducing inflammation related to alopecia, revealing promising molecular pathways and favorable pharmacokinetics while suggesting further research to validate these findings.
1 citations
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March 2021 in “Journal of Investigative Dermatology” Sirolimus can reduce tumor cell size in TSC-related skin tumors, but continuous treatment is needed to maintain benefits.
109 citations
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October 2007 in “American Journal of Human Genetics” This study found that postnatal treatment with recombinant EDA normalized adult teeth, improved sweating, and restored normal lacrimation in dogs with XLHED, suggesting its potential as a treatment for the condition.
87 citations
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March 2014 in “Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids” This paper discusses X-linked ichthyosis and its genetic causes, focusing on biochemical pathways and their role in epidermal differentiation and barrier function, but it presents no new clinical findings.
79 citations
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June 1991 in “Journal of Medical Genetics” This article discusses the classification of mental retardation based on IQ ranges and provides no new experimental findings.
66 citations
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June 2004 in “Biophysical Journal” Hard α-keratin in hair has a unique, nonordered structure, different from other fibers.
63 citations
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December 1998 in “Biochimica et Biophysica Acta (BBA) - Protein Structure and Molecular Enzymology” The study improved understanding of keratin fiber structure by showing consistent microfibril diameter but varying distances and electron density profiles.
52 citations
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January 2005 in “International journal of experimental pathology” This study suggests that melatonin may have a radioprotective role against X-ray-induced skin damage in rats, as evidenced by milder injury markers in pretreated animals.
44 citations
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April 2013 in “Proceedings of the National Academy of Sciences of the United States of America” This study found a significant association between reduced FGF13 levels and X-linked congenital generalized hypertrichosis, suggesting FGF13's potential role in hair follicle growth and the hair cycle.
35 citations
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April 2014 in “American Journal of Medical Genetics” The study reported a significant genotype–phenotype correlation in prepubescent males with XLHED, particularly in the severity of skin and hair manifestations between those with different EDA mutations.
31 citations
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January 2010 in “GenomeBiology.com (London. Print)” This study reports that X chromosomes often show greater differentiation between human populations than autosomes, likely due to a mix of demography and selection pressures.
31 citations
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December 2002 in “Biochimica et biophysica acta. G, General subjects/Biochimica et biophysica acta. General subjects (Online)” This study identified two types of calcium in human scalp hair, with one type highly variable between individuals, potentially impacting the analysis of environmental and medical factors related to hair calcium.
28 citations
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November 2009 in “Journal of Structural Biology” This study found that the molecular structure of hair is more sensitive to synchrotron X-ray radiation than its supramolecular architecture, indicating potential concerns for biological analyses using such radiation.
24 citations
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November 2015 in “Scientific reports” This study discovered a new region in the hair cortex where intermediate filaments are both aligned with the hair's axis and orientationally ordered, influenced by the cuticle boundary.
24 citations
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January 2000 in “Dermatology” 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.
23 citations
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October 2007 in “International journal of cancer” This study reports that hair from women with breast cancer showed a unique X-ray diffraction feature, potentially offering a non-invasive method for detecting the disease.
22 citations
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September 2003 in “Journal of Investigative Dermatology” This study analyzed patients with X-linked dominant chondrodysplasia punctata and identified novel mutations in the emopamil-binding protein gene, highlighting the need for genetic testing alongside biochemical analysis for accurate diagnosis.