July 2023 in “Developmental medicine and child neurology/Developmental medicine & child neurology” This study found that patients with Bachmann-Bupp syndrome treated with DFMO showed improvements in hair growth, muscle tone, and development.
1 citations
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January 2020 in “Benha Journal of Applied Sciences” This study found that DEFB1 polymorphisms, specifically the rs1800972 CG and GG genotypes, may predict susceptibility to and severity of alopecia areata.
1 citations
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June 2022 in “JCRPE” This study reports that metreleptin treatment in a boy with congenital generalized lipodystrophy significantly improved metabolic complications and overall health outcomes during the first year of therapy.
November 2025 in “The Journal of Immunology” In this study, researchers observed elevated levels of epidermal γδ T cells, keratinocytes, and an upregulation of the BST2 gene among immune cells in C3H/HeJ mice with alopecia areata, suggesting a potential role in disease pathogenesis.
166 citations
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November 2008 in “Expert Review of Endocrinology & Metabolism” This review discusses biotin and biotinidase deficiencies, their symptoms, and methods of medical management, without presenting new clinical findings.
2 citations
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February 1981 in “Journal of the Royal Society of Medicine” A three-year-old girl survived a rare serious infection caused by BCG vaccination, which improved after treatment with a leprosy drug.
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” This study compiled and functionally annotated 489 genes associated with hair disorders, revealing their involvement in diverse biological pathways, including those linked to cancer and cellular signaling.
March 2023 in “Frontiers in Cell and Developmental Biology” This review covers the role of proteoglycans in tissue growth and regeneration and highlights several studies on their potential as therapeutic targets, but reports no new clinical results.
1 citations
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October 2023 in “Heliyon” In this study, the researchers reported a new case of Hutchinson-Gilford progeria syndrome with a novel LMNA mutation and successful surgical intervention for airway obstruction.
11 citations
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January 2018 in “Acta dermato-venereologica” In this study, researchers identified gremilin-2 as a highly specific gene to the dermal sheath cup, suggesting it plays a key role in maintaining its properties.
5 citations
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January 2001 in “Journal of dermatological science” In this study, researchers found that the G(S)alpha subunit is strongly expressed in neonatal mouse hair follicles, indicating it may play a role in initiating follicle growth.
September 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” The researchers reported that TGM2 appears to play a crucial role in sebocyte differentiation and may act as a negative regulator of lipid metabolism in sebaceous glands.
October 2023 in “Case reports in dermatological medicine” In this case report, a 45-year-old Jordanian woman was diagnosed with Clouston syndrome, an autosomal-dominant disorder characterized by alopecia and nail dystrophy due to a mutation in the GJB6 gene, though she lacked the typical palmoplantar keratoderma.
11 citations
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April 2021 in “Cancers” This study identified a small molecule that activates GLI1, suppressing neuroblastoma cell growth, which may aid in developing new treatments for high-risk neuroblastoma cases.
June 2005 in “Journal of Investigative Dermatology” A bull with a gene mutation was asymptomatic, synthetic retinoids cause hair loss, and new therapeutic targets were identified for skin diseases.
1 citations
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March 2023 in “Science Translational Medicine” The researchers reported that targeting glycoprotein 130's signaling site in animal models promoted tissue regeneration and reduced osteoarthritis progression through anti-inflammatory and protective effects.
14 citations
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May 2017 in “Journal of Investigative Dermatology” This study reports a novel homozygous mutation in the DST gene causing a unique form of epidermolysis bullosa simplex with prurigo papules in a 39-year-old Syrian man.
March 2026 in “bioRxiv (Cold Spring Harbor Laboratory)” In this study, researchers developed a new method called Enriched-GF, which enhances growth factor recovery from platelet concentrates through a combination of glass bead activation, freeze-thaw cycling, and calcium stimulation, outperforming conventional methods by providing higher and more consistent yields for regenerative medicine applications.
July 2024 in “Journal of Dermatological Treatment” In this case report, a 6-year-old boy with hidrotic ectodermal dysplasia 2 caused by GJB6 mutations showed no significant hair improvement with age, despite treatment with botanical extracts and Minoxidil.
3 citations
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January 2005 in “Biological & Pharmaceutical Bulletin” This study reports that the peptide GPIGS, found in Bacillus sp. M18 conditioned medium, may promote hair growth through the PI-3K/Akt pathway and accelerate hair regrowth in mice.
September 2026 in “Stem Cell Reviews and Reports” Bulge progenitor cells show promise for regenerating hair follicles and increasing hair density.
This case report describes a six-year-old child with congenital biotinidase deficiency whose symptoms, including breathlessness, alopecia, and hearing loss, were reversed with biotin supplementation.
1 citations
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October 2022 in “Molecular therapy” This study found that betibeglogene autotemcel significantly improved transfusion independence in 89% of patients with transfusion-dependent beta-thalassemia, although the high cost and manufacturing challenges may limit widespread adoption.
January 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that the mutant hairless rhino bald protein in mice interacts with the vitamin D receptor but cannot repress its transactivation and shows abnormal cellular localization.
This study identified a genetic locus associated with rhabdomyosarcoma susceptibility in mice and found that specific differentiation markers are linked to the regression of basal cell carcinoma.
30 citations
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October 2014 in “PLOS ONE” This study found that BAF200, a subunit of the PBAF chromatin remodeling complex, is crucial for heart development and coronary artery formation in mice, as its absence led to embryonic lethality with severe cardiac defects.
41 citations
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June 2007 in “British Journal of Dermatology” This study found that men with Kennedy disease have a significantly lower risk of androgenetic alopecia, likely due to androgen receptor gene alterations from the disease's polyglutamine expansion.
September 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” This study indicates that a helminth-derived protein, TGF-β mimic, may accelerate wound healing and promote regenerative processes in skin tissue by interacting with TGF-β receptors.
April 2018 in “Journal of Investigative Dermatology” This study found that deleting all three Desmoglein 1 genes in mice led to impaired skin barrier function, disorganized epidermis, and postnatal lethality, highlighting Dsg1's essential role in epidermal development and maintenance.
8 citations
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December 2019 in “Molecular genetics and metabolism reports” This study found that early biochemical screening and molecular confirmation are crucial for distinguishing profound from partial biotinidase deficiency, which supports timely treatment and management in symptomatic children.