December 2023 in “American journal of medical genetics. Part A” In this study, researchers identified compound heterozygous variants in the MBTPS1 gene associated with ectodermal dysplasia features in a 14-year-old female, broadening the known disorder spectrum linked to these genetic mutations.
1 citations
,
February 2025 in “Journal of the Neurological Sciences” This study suggests that BTP levels in cerebrospinal fluid might help diagnose CIDP and predict therapy response but require validation in larger cohorts.
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.
28 citations
,
January 2016 in “Vitamins and hormones” This source reports that thymosin beta 4 accelerated dermal wound repair in phase 2 clinical trials for pressure ulcers, stasis ulcers, and epidermolysis bullosa wounds and was well tolerated.
21 citations
,
January 2018 in “Anticancer Research” This study suggests that NBCCS and BFHS may be the same genetic condition, which could help improve identification and management of misdiagnosed cases with specific surveillance strategies.
March 2018 in “Hair transplant forum international” The abstract describes the establishment of the TSHRS and its founding members but reports no new research findings.
This study identified a 14,883 bp genomic deletion affecting the Plcd1 and Vill genes as likely responsible for the abnormal phenotype observed in snthr-1Bao mice.
April 2018 in “Journal of Investigative Dermatology” This study found that the absence of Hes1 in hair follicles delays secondary hair germ activation and shortens the anagen phase, impacting HFSC self-renewal and long-term hair regeneration.
April 2026 in “Human Genome Variation” In this study, researchers identified a recurrent MBTPS2 splice-site variant as a mutational hotspot in IFAP syndrome across diverse families, with phenotype severity suggesting the influence of additional modifiers.
3 citations
,
May 2024 in “Cureus” This review revisits hair-thread tourniquet syndrome, highlighting the importance of prompt diagnosis and treatment by removing the constricting hair or similar substance to prevent damage to affected body parts, aiming to raise healthcare professionals' awareness for better prevention and management.
33 citations
,
December 2005 in “British Journal of Clinical Pharmacology” This study found that the Transdermal Delivery System efficiently delivers testosterone systemically and showed bioequivalent hormone concentrations to a known topical gel in healthy males.
3 citations
,
July 2022 in “Stem Cell Research & Therapy” This study found that knocking out the integrin β1 subunit in induced pluripotent stem cells enhanced their migration and improved their wound-healing effects in a mouse model.
12 citations
,
December 2022 in “Current Protein and Peptide Science” This review discusses the molecular mechanisms and clinical applications of thymosin β4, highlighting its potential benefits for inflammation, wound healing, tumor metastasis, and other medical conditions but reports no new experimental results.
January 2026 in “Biochemical Pharmacology”
This study suggests that skin tumor cells in tuberous sclerosis complex may promote hamartoma morphogenesis by expressing and releasing higher levels of cathepsin B.
10 citations
,
January 1997 in “Dermatology” This case report details two siblings with trichothiodystrophy, identifying reduced hair sulfur content as essential for diagnosis despite varied symptoms complicating recognition.
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.
December 2021 in “Figshare” This study suggests that BBS7 is crucial for maintaining Sonic hedgehog signaling activity, which is important for periodontal ligament homeostasis under occlusal hypofunction conditions.
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.
December 2021 in “OPAL (Open@LaTrobe) (La Trobe University)” This study found that BBS7 is crucial for maintaining Sonic hedgehog signaling activity and periodontal ligament homeostasis, with changes in gene expression observed in occlusal hypofunctional PDL.
27 citations
,
May 2011 in “Journal of Investigative Dermatology” TCHHL1 is a protein important for hair growth, found in hair follicles.
19 citations
,
July 1997 in “British Journal of Dermatology” This study successfully developed and characterized a monospecific monoclonal antibody, LHTric-1, that specifically localizes to the pre-cortical region of the hair follicle and can aid research on hair and nail formation.
110 citations
,
April 2009 in “Cell Motility and the Cytoskeleton” This review discusses the intracellular activity of β-thymosins and their role in modulating the actin cytoskeleton, but it reports no new experimental results.
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.
10 citations
,
June 2011 in “Movement Disorders” THAP1 gene changes do not affect DYT1 dystonia; finasteride may help reduce tics and OCD in Tourette syndrome.
December 2021 in “Figshare” This study found that BBS7 is crucial for maintaining Shh signaling and periodontal ligament homeostasis, with occlusal hypofunction leading to its downregulation and impacting cell migration and angiogenesis.
January 2024 in “Hair transplant forum international” This source describes the American Board of Hair Restoration Surgery's mission to set standards and evaluate skills in hair restoration surgery, but does not report any specific study results.
January 2023 in “Indian dermatology online journal” This case study describes a previously unknown association of the PIBIDS complex with autoimmune thyroiditis and autoimmune hemolytic anemia in a five-year-old Indian child.
December 2021 in “Figshare” This study found that BBS7 is important for Sonic hedgehog signaling activity, which may be crucial for maintaining periodontal ligament homeostasis in occlusal hypofunction.
7 citations
,
March 2004 in “Journal of the American Academy of Dermatology” Tiger tail banding and hair abnormalities are reliable indicators for diagnosing trichothiodystrophy.