1 citations
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February 2025 in “International Journal of Molecular Sciences” This study found that supplementing Liaoning cashmere goats with HMBi increased cashmere length while decreasing its diameter, attributed to changes in Met-related metabolites and elevated expression of genes related to the Met cycle and cell differentiation pathways such as Wnt and MAPK.
This study found that ocu-miR-205 promotes the apoptosis of dermal papilla cells and the transformation of hair follicles from growth to regression and resting phases in Rex rabbits.
202 citations
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August 2017 in “Nature cell biology” This study found that glycolytic metabolism and lactate production are crucial for hair follicle stem cell activation, and manipulating these processes can stimulate the hair cycle.
36 citations
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January 2019 in “Nature communications” This study found that Ldh activity in hair follicle stem cell-mediated squamous cell carcinoma is not necessary for tumorigenesis, as its modulation did not affect the cancer's development or characteristics.
10 citations
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June 2018 in “Journal of visualized experiments” This study demonstrated that lactate dehydrogenase activity is notably high in quiescent hair follicle stem cells within mouse skin using a specific enzymatic activity assay.
In this study, human dermal papilla cells exposed to wasabi leaf extract showed changes in cytokine-related gene expression, which the authors suggest could help clarify the biological effects of wasabi.
45 citations
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May 2003 in “Journal of Cell Science” This study found that α3β1-integrin is crucial for maintaining normal hair follicle morphology in mice, as its deficiency leads to severe abnormalities despite not affecting interfollicular epidermal differentiation.
October 2017 in “Indian heart journal” Higher levels of small, dense LDL cholesterol are linked to a greater risk of heart attack in young adults.
1 citations
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July 2025 in “Scientific Reports” This study found that combining diagonal earlobe crease with lipoprotein(a) provides strong diagnostic value for coronary heart disease.
August 2025 in “International Journal of Contemporary Pediatrics” This case report presents a rare subtype of hypomyelinating leukodystrophy linked to a PYCR2 gene mutation, emphasizing exome sequencing's value in diagnosing undiagnosed childhood HLDs with atypical symptoms.
26 citations
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August 2009 in “Journal of Pediatric Gastroenterology and Nutrition” This study reports that gastrointestinal problems, such as intractable diarrhea and enterocolitis, can dominate the clinical course of patients with Hoyeraal-Hreidarsson syndrome and may occur before hematological and immunological symptoms.
45 citations
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February 2011 in “Journal of the European Academy of Dermatology and Venereology” This study found that patients with lichen planus had significantly higher levels of triglycerides, total cholesterol, and LDL-C, and lower HDL-C compared to healthy controls, suggesting an association with dyslipidaemia.
9 citations
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June 2017 in “American journal of ophthalmology. Case reports” This case report identifies a novel CDH3 gene mutation associated with hypotrichosis with juvenile macular dystrophy in a 13-year-old Turkish girl, highlighting implications for future genetic analysis and counseling.
5 citations
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June 2015 in “The Journal of Dermatology” This study identified "HTLV-1-associated lichenoid dermatitis" as a skin condition in HTLV-1-infected individuals, characterized by reactive eruptions associated with increased immunity toward infected CD4+ T cells.
1 citations
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June 2022 in “Chinese medical journal/Chinese Medical Journal” This study identified two novel mutations in the CDH3 gene causing HJMD in a Chinese patient, expanding the genetic and phenotypic understanding of the disorder.
37 citations
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August 2011 in “Journal of Bone and Mineral Research” This study reported a case of hereditary vitamin D–resistant rickets caused by a single heterozygous missense mutation in the VDR gene, showing dominant-negative effects and reduced response to 1,25-dihydroxyvitamin D3.
2 citations
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July 2015 in “Case Reports in Dermatology” In this case study, DDS treatment for LABD was complicated by hemolytic anemia and alopecia, suggesting the need for careful monitoring of these potential side effects.
19 citations
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May 2004 in “The American Journal of Dermatopathology” In this study, scalp biopsies from HJMD patients revealed histological similarities to chronic telogen effluvium and highlighted the role of CDH3 mutations disrupting normal hair cycles.
5 citations
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January 2017 in “Arquivos Brasileiros de Oftalmologia” This report describes a novel mutation in the CDH3 gene in an 11-year-old Iranian boy with hypotrichosis and juvenile macular dystrophy, indicating a new genetic variant associated with the disorder.
15 citations
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November 2012 in “Archives of Ophthalmology” This description of dystrophy hypotrichosis associated with juvenile macular dystrophy provides an overview of this rare disorder characterized by short hair from birth and progressive loss of central vision but reports no new findings.
177 citations
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December 2002 in “The Lancet” In this study, single fibrinogen/LDL apheresis showed a significant improvement in speech perception for patients with plasma fibrinogen concentrations over 295 mg/dL compared to standard treatment for sudden sensorineural hearing loss.
7 citations
,
September 2013 in “Familial cancer” This review discusses recent insights into Birt–Hogg–Dube syndrome, including the functions of the FLCN gene and clinical recommendations for screening and treatment, but it reports no new experimental results.
1 citations
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January 2013 in “Lung India” This letter discusses how differentiating features in clinical and radiological findings can help distinguish pulmonary Langerhans cell histiocytosis and Birt-Hogg-Dube syndrome from lymphangioleiomyomatosis, noting overlapping symptoms but specific distinctive traits.
6 citations
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June 2018 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” In this study, eight patients with hereditary vitamin D-resistant rickets who share a specific VDR mutation showed improved clinical symptoms except alopecia after up to 11 years of treatment.
January 2026 in “Medicine” This study found that elevated LDL-C levels increased the risk of developing androgenic alopecia, whereas HDL-C levels showed no significant effect.
30 citations
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August 2005 in “British journal of dermatology/British journal of dermatology, Supplement” This study identified a novel CDH3 mutation associated with sparse hair and pigmentary macular changes in two siblings with hypotrichosis but no visual symptoms.
May 2021 in “Journal of the Endocrine Society” This report presents a rare case of suspected 3β HSD deficiency in an adult female with symptoms like male pattern hair loss and low testosterone, suggesting a non-classical presentation.
23 citations
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July 2016 in “JAMA Ophthalmology” This study observed that CDH3-related congenital hypotrichosis with juvenile macular dystrophy presents with childhood-onset progressive chorioretinal atrophy and universally thin and sparse scalp hair.
4 citations
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February 2023 in “Research Reports in Clinical Cardiology” This study found that the ACE gene DD genotype and D allele are linked to an increased risk of hypertensive IHD complications, with dyslipidemia also identified as a significant risk factor for ischemic heart disease.
29 citations
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February 2016 in “International Journal of Dermatology” This study found that patients with lichen planus were significantly more likely to have dyslipidemia, particularly with higher triglyceride levels.