60 citations
,
August 2008 in “Human molecular genetics online/Human molecular genetics” This study suggests that a position effect disrupting TRPS1 expression may be linked to hypertrichosis in both Ambras syndrome in humans and a similar phenotype in Koa mice.
59 citations
,
November 2011 in “Development” This study found that the transcription factor Trps1 acts as a novel regulator of the Wnt signaling pathway and early hair follicle progenitors in developing vibrissa follicles in mice.
52 citations
,
July 2011 in “PubMed” This review discusses the diverse roles of the TRPS1 gene in regulating cartilage, kidney, and hair follicle development, highlighting its functions and interactions, but provides no new experimental results.
46 citations
,
November 2007 in “Gene Expression Patterns” This study observed that Trps1 gene expression in mice is precisely regulated in skin development, particularly during hair follicle morphogenesis, with distinct localization patterns in different cell types.
16 citations
,
March 2013 in “The Journal of Dermatology” This case report identifies a novel mutation in a patient with trichorhinophalangeal syndrome 1 and reduced TRPS 1 protein expression in hair follicle tissues compared to normal subjects.
9 citations
,
May 2014 in “BMC medical genetics” In this case report, the authors suggest that a novel enhancer element's translocation near the TRPS1 gene may contribute to the TRPS phenotype, expanding understanding of the syndrome's genetic basis.
2 citations
,
September 2016 in “Journal of Dermatological Science” Reduced TRPS1 leads to increased STAT3 and SOX9 in hair follicles, affecting hair growth.
A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.
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.
July 2022 in “Journal of Investigative Dermatology” This study found that decreased TRPS1 expression in balding dermal papilla cells may impair their signaling ability, contributing to hair follicle miniaturization in androgenic alopecia.
1 citations
,
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.
17 citations
,
November 2012 in “Journal of Investigative Dermatology” This paper reviews the genetic aspects of hair disorders and suggests that understanding these genes could advance treatment and diagnosis; it reports no new experimental findings.
12 citations
,
January 2001 in “Der Hautarzt” This report on a 37-year-old patient found that trichorhinophalangeal syndrome type I is associated with hair abnormalities, including fine and brittle hair with altered biomechanical properties, but no treatment exists for the hair defects.
10 citations
,
January 1995 in “Dermatology” This case study suggests that early or significant alopecia in young adults may warrant investigation for underlying congenital conditions like trichorhinophalangeal syndrome.
10 citations
,
November 2018 in “The Italian Journal of Pediatrics/Italian journal of pediatrics” This case report identifies a mutation in the TRPS1 gene, leading to the diagnosis of trichorhinophalangeal syndrome type I in a young girl and her family, highlighting the importance of detailed clinical and family history for proper diagnosis.
9 citations
,
January 2017 in “Annals of Dermatology” In this study of a TRPS type I patient, many genes related to keratin and hair development were down-regulated in balding scalp areas, providing new insights into TRPS and hair morphogenesis.
9 citations
,
April 2020 in “Journal of dermatology” This case report describes a Thai male with TRPS1 who exhibited unique and unreported features such as hypoplastic mandibular condyles, double mental foramina, and distinctive hair abnormalities.
4 citations
,
January 2018 in “Annals of dermatology/Annals of Dermatology” Hair transplantation successfully treated hair loss in a patient with Trichorhinophalangeal syndrome.
3 citations
,
December 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” In this study, researchers found that inhibiting YAP signaling in skin wounds leads to regenerative repair with active Trps1 and Wnt signaling, contrasting the typical fibrotic scarring process.
3 citations
,
April 2012 in “Bioinformation” This study concluded that specific SNPs in the TRPS1 gene significantly alter its protein structure, affecting interactions and contributing to the development of congenital hypertrichosis.
1 citations
,
January 2020 in “Skin appendage disorders” This case study documents the co-existence of trichorhinophalangeal syndrome and loose anagen syndrome in a patient, highlighting a previously unreported association between the two conditions.
1 citations
,
January 2023 in “Indian Journal of Dermatology/Indian journal of dermatology” This case study reported that 5% minoxidil solution effectively promoted hair growth and resulted in generalized hypertrichosis in a 7-year-old with Trichorhinophalangeal syndrome type I.
January 2024 in “Pediatric Dermatology” This case study found that a 9-year-old girl with trichorhinophalangeal syndrome type 1 experienced significant improvements in hair density and length after 4 months of topical minoxidil treatment, suggesting its therapeutic potential for this condition.
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.
November 2022 in “Journal of the Endocrine Society” This case study suggests that genetic susceptibility to PCOS and rare syndromes, such as Trichorhinophalangeal syndrome Type 1, should be considered in young men with unexplained hyperandrogenism.
August 2022 in “Journal of Comprehensive Pediatrics” This case report describes a 15-year-old girl with trichorhinophalangeal syndrome type 1 and a rare non-ossifying fibroma in her femur, suggesting a potential link between the genetic condition and bone lesions.
May 2024 in “British journal of dermatology/British journal of dermatology, Supplement” In this study, researchers found that frontal hair follicles in individuals with androgenetic alopecia show a higher biological age compared to occipital follicles, possibly due to decreased expression of the transcriptional repressor TRPS1 in frontal dermal papillae, which may influence follicle miniaturization.
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” This study used single-cell and spatial transcriptomic profiling to identify specific molecular markers in human follicular dermal papilla cells, enhancing understanding of their role in hair follicle development.
July 2021 in “Plastic and reconstructive surgery. Global open” This study found that treating wounds in mice with the drug verteporfin, which inhibits mechanical signaling, leads to skin regeneration associated with the activation of Wnt pathway proteins.
July 2025 in “Dermatology Practical & Conceptual” In this study, researchers found that hair alterations such as frontal-occipital inversion in males and a high occipital hairline may aid in diagnosing the uncommon condition TRPS.