15 citations
,
May 2009 in “Chemical Physics Letters” This study demonstrated that a metric based on rotational echo intensity in 2H magic-angle spinning NMR can derive kinetic information for conformational exchange without complex modelling, achieving activation barriers consistent with prior findings.
3 citations
,
December 2013 in “Balkan Journal of Medical Genetics” This case report highlights the use of microarray analysis to identify cryptic chromosomal rearrangements in a young woman with intellectual disability and multiple congenital anomalies.
43 citations
,
September 2001 in “Annals of Neurology” This study found that somatic mosaic mutations in the doublecortin gene may cause subcortical band heterotopia in male patients, and molecular analysis using hair roots is a useful detection method.
48 citations
,
August 1998 in “Developmental Biology” In this study, researchers created a mutant mouse lacking the first cut repeat in the Cux/CDP protein, resulting in curly vibrissae and wavy hair, supporting the role of Cux/CDP's DNA binding domains in gene regulation during development.
10 citations
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March 2014 in “Scandinavian journal of clinical and laboratory investigation” This study found that MDA-modified DNA may contribute to immune responses in alopecia areata patients by creating neo-epitopes, providing new insights into the condition's immunological mechanisms.
4 citations
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May 2025 in “Cells” This study found that miR-370-3p targets SMAD4 to inhibit cell proliferation, promote apoptosis, and affect the cell cycle in follicular papilla cells, demonstrating differences in their expression in sheep tissues, which may impact hair follicle development.
35 citations
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August 2009 in “Differentiation” This study found that transcription factors HOXC13, LEF1, and FOXN1 repress DSG4 transcription, with the Notch pathway possibly involved in maintaining DSG4 expression in hair follicles.
In a case report, this study identified a new genetic variant in a six-year-old girl from Saudi Arabia with hypotrichosis and juvenile macular dystrophy, expanding the understanding of the genetic spectrum of this rare condition in the region.
January 2019 in “Applied Organometallic Chemistry” The compound (NH4)2Mn0.17Cu0.83Cl4.2H₂O has a specific structure, shows weak magnetism at low temperatures, and undergoes phase changes at high temperatures.
97 citations
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March 2002 in “Molecular and cellular biology” This study found that mice with a mutant CDP/Cux protein lacking the homeodomain showed severely impaired growth, high postnatal mortality, and reduced fertility, highlighting CDP/Cux's role in developmental regulation.
April 2023 in “Journal of Investigative Dermatology” This study found that MPZL3 plays a crucial role in controlling sebaceous gland size and sebocyte proliferation in mice and humans, implicating its potential involvement in skin disorders like acne and psoriasis.
7 citations
,
July 2008 in “Experimental Dermatology” This study identified molecular elements controlling the expression and stabilization of THH protein in hair follicle cells, revealing key mechanisms that support hair shaft development in mice.
2 citations
,
January 2025 in “Development” In this study, researchers explored ear pinna development in two rodent species and identified that BMP5 plays a crucial role in chondroblast proliferation but not in their initial specification, with implications for understanding tissue differentiation and potential impacts on reconstructive surgery.
January 2024 in “Research Square (Research Square)” This study identified robust susceptibility genes and potential drug candidates for male-pattern baldness, providing insights into the condition's molecular mechanisms.
18 citations
,
April 2016 in “Molecular Genetics and Genomics” This study suggests that thymosin beta 4 may regulate hair growth by influencing VEGF and MMP-2 levels through the Wnt/β-catenin/Lef-1 signaling pathway in mouse models.
July 2021 in “British Journal of Dermatology” This report describes a boy with ectodermal dysplasias who was genetically diagnosed due to newly discovered TSPEAR gene variants, which have now been associated with this condition.
39 citations
,
November 2005 in “The journal of investigative dermatology/Journal of investigative dermatology” The study concluded that fatty acid transport protein 4 in epidermal keratinocytes is crucial for maintaining normal skin structure, as its deficiency led to hyperkeratosis and epidermal barrier disruption in mice.
5 citations
,
January 2016 in “Genetics and molecular research” In this study, a specific SNP in the A2M gene of Murrah buffaloes was significantly associated with increased fat production and higher fat and protein percentages in milk.
1 citations
,
May 2021 in “BMC Proceedings” This study found that frequent attenders at Cork University Hospital's emergency department accounted for a disproportionate amount of visits and were more likely to require admission for further care.
August 2025 in “Journal of Medical and Biological Engineering” In this study, a needle-free supersonic atomizer delivering Bacopa monnieri extract with hyaluronan was found to enhance hair growth in mice more effectively than the traditional smear method and minoxidil.
1 citations
,
March 2024 in “Genes & Diseases” EBF1 controls hair type and length.
January 2023 in “Toxicological Research”
December 2024 in “Kırıkkale Üniversitesi Tıp Fakültesi Dergisi” This study found that chromosomal microarray analysis identified copy number variations in 12% of patients with dysmorphic features and congenital anomalies, demonstrating its potential as a diagnostic tool, especially for rare CNVs and immune deficiency linked to the deletion of CTLA4.
August 2026 in “The FASEB Journal” This study identified two key epigenetic-related genes, HR and SMYD4, which may act as potential biomarkers in keloid disease, suggesting new therapeutic avenues for further research.
September 2024 in “Frontiers in Genetics” In this study, researchers found a significant association between the rs13405699 SNP at 2q31.1 and male pattern baldness among Han Chinese men, suggesting genetic influence on this condition in this population.
39 citations
,
January 2015 in “Annals of dermatology/Annals of Dermatology” This review discusses three newly identified forms of epidermolysis bullosa related to mutations in DST-e, EXPH5, and ITGA3, offering insights into their genetic and clinical characteristics but reports no new clinical results.
5 citations
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June 2020 in “Medicine” This report discusses a 22-year-old patient with MELAS syndrome carrying the m.10158T>C mutation, and highlights the need for extensive genetic testing when initial hot-spot mutation tests are negative.
April 2016 in “Journal of Investigative Dermatology” This study identified mefloquine as a potent inducer of lethal ER stress that effectively eliminated vemurafenib-resistant and sensitive melanoma cells, suggesting its potential for repurposing as a melanoma treatment.
97 citations
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March 2006 in “Journal of Investigative Dermatology” This study identified four novel DSG4 mutations associated with monilethrix in 12 Jewish families, suggesting a recessive inheritance pattern and broader prevalence of DSG4-related hair disorders than previously recognized.
January 2021 in “대한미용학회지” In this study, Boswellia administration improved symptoms of DNCB-induced dermatitis in mice and altered hair-related gene expressions, which might positively affect hair cycle disturbances caused by dermatitis.