July 2021 in “British Journal of Dermatology” This document reported a case of a 13-year-old boy diagnosed with ectodermal dysplasia (ED) due to missing and conical-shaped teeth and abnormal hair texture. Initial genetic testing did not reveal any pathogenic variants, but later whole-genome analysis identified compound heterozygous TSPEAR variants, which are linked to autosomal recessive ED. This condition, characterized by hypodontia, conical teeth, and abnormal hair texture, had only been reported in five cases worldwide at the time. The discovery of the TSPEAR gene's role in ED highlights the importance of revisiting earlier genetic test results as new genes are discovered. The boy's affected sister also benefited from this genetic diagnosis for better management and counseling.
8 citations
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December 2008 in “Journal of The American Academy of Dermatology” Finasteride can cause a unique skin reaction on the penile shaft.
January 2023 in “International journal of biological sciences” COX2 and ATP synthase control the size of hedgehog spines.
3 citations
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June 2016 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” A patient with hair loss condition grew excessive hair in areas covered by a cast.
33 citations
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September 2020 in “Current Rheumatology Reports” Targeting adipocyte-to-mesenchymal transition could help treat fibrosis.
70 citations
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December 1968 in “Journal of Investigative Dermatology” January 2024 in “Wiadomości Lekarskie” Bisphosphonate therapy can cause jawbone necrosis, so dental care is crucial before and during treatment.
October 2014 in “Archives of Disease in Childhood” Growth hormone therapy can improve symptoms and growth in children with Vitamin-D Dependent Rickets Type-2.
September 2021 in “Pediatrics in review” A baby with KID syndrome died from infections and organ failure at 18 months old.
Compound 6 is a promising candidate for better wound healing.
January 2026 in “Indian Journal of Paediatric Dermatology” A rare case shows a possible link between Neurofibromatosis type 1 and Becker nevus due to genetic mutations.
11 citations
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January 1988
July 2021 in “British Journal of Dermatology” A woman with systemic sclerosis developed a unique scarring hair loss combining features of systemic sclerosis and frontal fibrosing alopecia.
109 citations
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December 2003 in “American Journal of Pathology” Fetal wound healing changes with development, affecting inflammation and collagen, which may influence scarring.
24 citations
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August 2023 in “International Journal of Molecular Sciences” Platelet-rich fibrin shows promise in healing cartilage and joint injuries but needs more testing.
87 citations
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September 2019 in “Nature Communications” SOX11 and SOX4 help skin cells act like embryonic cells to heal wounds in mice.
June 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” A specific molecular switch, driven by MAPK/ERK signaling, helps spiny mice heal wounds by regenerating skin instead of forming scars.
43 citations
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January 1999 in “Endocrinology” Cortisol increases a specific protein in bone cells, which may help explain its negative effects on bone.
50 citations
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September 2012 in “Developmental Biology” Sprouty and FGF balance is crucial for normal feather shape and size.
226 citations
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May 2004 in “Journal of Biological Chemistry” Collagen XXII is a marker for tissue junctions, aiding in structural integrity and found in muscles, heart, skin, and arthritic joints.
January 2021 in “TURKISH JOURNAL OF VETERINARY AND ANIMAL SCIENCES” Platelet-rich plasma speeds up bone healing and reduces complications.
2 citations
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January 1989 Tay syndrome is a unique genetic disorder causing skin, hair, and developmental issues.
11 citations
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June 2010 in “Medical Molecular Morphology” Careful diagnosis is crucial for premature pubarche, as 20% of cases have other conditions.
1 citations
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December 2018 in “Journal of genetic medicine” A small change in the TRPS1 gene leads to a less severe form of a syndrome affecting hair, nose, and finger development.
February 2022 in “Journal of Investigative Dermatology” Newborn skin cells can change into wound-healing cells more easily than adult ones, which might explain why baby skin heals without scars. Understanding this could help treat chronic wounds and prevent scarring.
39 citations
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May 2010 in “Stem Cells” Ephrins slow down skin and hair follicle cell growth.
2 citations
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January 2025 in “Development” BMP5 is essential for ear cartilage cell growth in rodents.
9 citations
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August 1986 in “Archives of Pediatrics and Adolescent Medicine” Familial sexual precocity in girls may be more common than previously thought.
6 citations
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October 2022 in “Frontiers in Oncology” New techniques and materials improve sternum reconstruction and patient quality of life.