48 citations
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April 2024 in “Nature Communications” The new method improves bone repair by enhancing cell loading and stability in bioprinted scaffolds.
29 citations
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April 2020 in “Biomolecules” The 3D scaffold helped maintain hair cell traits and could improve hair loss treatments.
8 citations
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June 2024 in “APOPTOSIS” Caspases affect many cell functions and could help treat various diseases.
4 citations
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November 2015 in “Aesthetic Plastic Surgery” Using tissue expanders for scalp reconstruction in patients with extensive Aplasia Cutis Congenita is effective and has minimal complications.
July 2023 in “Research Square (Research Square)” Using 120% sodium citrate in blood gives the best platelet recovery and enrichment.
August 2004 in “Journal of the American College of Surgeons” Several genes, including Hox-7A, Stra6, and Lim-1, are involved in normal palate formation.
October 2012 in “Indian Journal of Dermatology, Venereology and Leprology” 174 citations
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July 2003 in “The Journal of Clinical Endocrinology & Metabolism” Five new mutations in the androgen receptor gene were found, helping to understand androgen insensitivity syndrome better.
20 citations
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November 2003 in “American Journal Of Pathology” Fibroblasts from healthy donors can prevent changes seen in recessive epidermolysis bullosa simplex.
10 citations
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July 2001 in “PubMed” A new type of pachyonychia congenita may exist, caused by a different keratin mutation.
1 citations
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May 2019 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” Intravenous calcium therapy is a safe and effective treatment for a rare type of rickets.
20 citations
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January 2005 in “Australasian Journal of Dermatology” A woman had a skin condition with increased normal elastic fibers, not related to other known disorders, likely due to aging.
2 citations
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May 2022 in “The journal of immunology/The Journal of immunology” BST2 protein and certain T cells increase in early alopecia areata.
A young athlete's fragile hair condition improved by cutting hair and using gentle shampoo.
2 citations
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May 2023 in “Indian Journal of Dermatology Venereology and Leprology” A new genetic mutation in the CAST gene may link PLACK syndrome to alopecia areata.
2 citations
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January 2019 in “Acta dermato-venereologica”
September 2022 in “JAAD case reports” The man has a genetic skin condition called pachyonychia congenita.
September 2012 in “Annals of saudi medicine/Annals of Saudi medicine” The twins' condition is unique and doesn't match any known syndromes.
55 citations
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November 2018 in “American journal of human genetics” Mutations in the LSS gene cause a rare type of hereditary hair loss.
26 citations
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June 2004 in “Clinical Genetics” The keratin 5 mutation in a family with epidermolysis bullosa simplex was due to mosaicism, not a new mutation.
26 citations
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October 2007 in “American Journal of Dermatopathology” Basal cell carcinoma with matrical differentiation is a rare type linked to hair follicles, with .-catenin important for its development.
9 citations
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August 2024 in “International Journal of Molecular Sciences” Promising treatments for EBS include anti-inflammatory drugs, antibiotics, creams, mTOR inhibitors, and gene editing, but more trials are needed.
June 2024 in “Annals of Medicine and Surgery” A 23-year-old Syrian woman has two rare hair disorders, and avoiding hair treatments plus using vitamins and minoxidil may help.
4 citations
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December 2020 in “Dermatologic Therapy” Ellis van Creveld syndrome, a rare genetic disorder, can cause unexpected abnormalities in various body organs, requiring thorough patient evaluations.
372 citations
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December 2004 in “Nature Genetics” July 2024 in “Journal of Investigative Dermatology” CRISPR/Cas9 and prime editing can potentially fix skin disorder genes safely and effectively.
2 citations
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April 1970 in “Archives of Dermatology” Ichthyosis serpentina may be a variant linked to bamboo hair, with a possible genetic component.
12 citations
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March 2013 in “The American journal of dermatopathology/American journal of dermatopathology” Birt–Hogg–Dubé Syndrome requires genetic testing for accurate diagnosis due to its similarities with tuberous sclerosis.
15 citations
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May 2014 in “Journal of dermatology” Zouboulis syndrome is a rare condition that helps diagnose monosomy 18p early.
87 citations
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March 2014 in “Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids” Cholesterol sulfate buildup due to a genetic mutation disrupts the skin barrier, leading to the scaling skin seen in X-linked ichthyosis.