8 citations
,
January 2009 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” This study reports a novel TRbeta gene mutation associated with resistance to thyroid hormone syndrome, which may contribute to various forms of alopecia in the affected family members.
20 citations
,
July 2017 in “Scientific Reports” This study found that a novel missense mutation in the vitamin D receptor caused hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia by disrupting protein function, highlighting the importance of DNA binding in hair development.
50 citations
,
December 2005 in “European Journal of Immunology” This study found that a specific mutation in the mouse RXRalpha gene significantly impacts immune responses and causes hair loss and skin cysts.
2 citations
,
November 2004 in “Blood” In this study, researchers reported that the Pinkie mutation in mice, affecting RXRa activity, leads to skewed Th1 development and suggests RXRa's role in Th2 differentiation, impacting immune responses.
55 citations
,
November 2010 in “Journal of Allergy and Clinical Immunology” This study found that the TLR3 L412F genetic variant is associated with severe viral infections, especially CMV, and immune dysfunction in a subgroup of chronic mucocutaneous candidiasis patients.
160 citations
,
June 2008 in “American Journal Of Pathology” This review discusses the effects of the epidermal growth factor receptor system on skin biology and pathology, relying on animal models to analyze roles in cellular processes, wound healing, and tumorigenesis, but reports no new results.
December 2023 in “JCEM case reports” In this study, researchers identified a novel genetic variant in the NR3C1 gene in a mother and her son that predicts a truncated protein, leading to glucocorticoid resistance syndrome with mild hyperandrogenic features, although no clear genotype-phenotype correlation has been established.
60 citations
,
November 2009 in “General and Comparative Endocrinology” The researchers reported that during early embryogenesis and larval development in Silurana tropicalis, inhibiting steroidogenic enzymes cyp19 and srd5beta affects genes related to thyroid and reproductive systems.
9 citations
,
July 2020 in “Experimental Dermatology” This review emphasizes the potential of repurposing topical L-thyroxine for skin ulcers and telogen effluvium and highlights the need for further exploration of its use in dermatology.
1 citations
,
April 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” This study suggests that seasonal rhythm genes in cashmere goat skin are differentially expressed with changing daylight, potentially affecting hormone transformation and light sensitivity.
42 citations
,
March 2008 in “Molecular and Cellular Endocrinology” This review explores the potential (neuro-)endocrine influences on hair follicle epithelial stem cell biology and emphasizes the need for more systematic research, but it provides no new empirical results.
11 citations
,
March 2018 in “Protoplasma” In this laboratory study, procyanidin B2 inhibited early plant growth and biochemical responses in wheat seedlings treated with lipopolysaccharides from Azospirillum brasilense, suggesting that plant response activation requires LPS recognition by plant cells.
32 citations
,
January 2010 in “Journal of Dermatological Science” In this study, Waved-5 mice with reduced EGFR signaling showed nearly normal skin and hair follicle function but experienced a transient reduction in subcutaneous fat.
44 citations
,
November 2022 in “Frontiers in Immunology” This review discusses the role of toll-like receptors in cancer treatment, providing an overview of pre-clinical studies and clinical trials on TLR-targeted therapies and noting the challenges and future prospects.
14 citations
,
February 2024 in “Biomolecules” This review explores the role of transient receptor potential vanilloid channels in the pathogenesis of osteoarthritis but reports no new clinical results.
January 2026 in “BMC Veterinary Research” The researchers reported finding a recessive nonsense variant in the EGFR gene responsible for perinatal lethality in the "Blonde d'Aquitaine" cattle breed, prompting the development of a screening test to help eradicate this genetic flaw.
March 2012 in “Hair transplant forum international” This article discusses differences in hair loss among monozygotic female twins despite identical genetics and reports no new clinical findings.
62 citations
,
March 2017 in “Journal of Investigative Dermatology” Mutations in the ACTB gene cause Becker’s nevi and may lead to muscle issues in Becker’s nevus syndrome.
3 citations
,
January 2021 in “Molecular genetics & genomic medicine” In this study, novel mutations in the BTD gene were identified in a patient with profound biotinidase deficiency, highlighting the importance of biotinidase activity measurement and mutation analysis for early diagnosis.
188 citations
,
June 1998 in “Molecular cell” This study found that mimicking the XPD point mutation in mice resulted in trichothiodystrophy-like symptoms, supporting the role of basal transcription and DNA repair defects in the disease.
1 citations
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December 2018 in “Journal of genetic medicine” In this case report, a 20-year-old male with tricho-rhino-phalangeal syndrome was found to have a de novo frameshift mutation in the TRPS1 gene, highlighting the challenges in diagnosing this rare disorder.
October 2024 in “Journal of the Endocrine Society” This case report highlights that a patient with resistance to thyroid hormone was misdiagnosed as having Graves’ disease, leading to unnecessary radioactive iodine treatment.
5 citations
,
October 2021 in “American Journal of Medical Genetics Part A” This case report identifies a novel maternally inherited MBTPS2 variant associated with an expanded phenotypic spectrum of BRESHECK syndrome, including cytopenias, bone marrow fibrosis, and chronic diarrhea.
21 citations
,
March 2015 in “Neurological Sciences” This study reports that a novel frameshift mutation in the HTRA1 gene in a CARASIL pedigree led to reduced HTRA1 protein and increased TGF-β1 expression, potentially causing severe CARASIL and peripheral small arterial disease.
January 2013 in “International Journal of Trichology” This case report highlights the discovery of a novel TRPS1 gene mutation in a 17-year-old with TRPS type I, underscoring the diagnostic importance of hair symptoms in congenital hair diseases.
December 2013 in “Appetite” This study identified a nonfunctional Itpr3 gene in BTBR mice, attributed to a 12-bp deletion, which likely causes their simultaneous hair loss and taste perception deficits.
4 citations
,
October 2003 in “Annales de Génétique” This study identified a mutation in the KRTHB6 gene in two monilethrix families of Indian origin, linking specific genetic variations to different severities of hair defects within the families.
17 citations
,
October 2006 in “Molecular and Cellular Endocrinology” This study found that the L457(3.43)R mutation in the human luteinizing hormone receptor increases phosphodiesterase activity, reducing hormonal response despite elevated basal cAMP levels.
July 2025 in “Clinical Case Reports” In this case report, a 17-year-old male with a specific TRPS1 gene mutation presented with sparse, soft hair, short thumbs and toes, misaligned teeth, and distinctive bone abnormalities in the fingers and toes as observed through X-ray analysis.
20 citations
,
December 1999 in “Journal of Investigative Dermatology” Mutations in the hHb6 gene cause the hair disorder monilethrix.