A 12-year-old girl in Saudi Arabia with Focal dermal hypoplasia showed skin and dental symptoms, highlighting the condition's variability and the need for personalized treatment.
17 citations
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December 2013 in “PLoS ONE” The postnatal thymus has cells like mesenchymal stem cells that can become different cell types and help maintain thymus structure.
March 2003 in “中華皮膚科醫學雜誌” Trichothiodystrophy causes unusual hair and developmental issues.
November 2023 in “Linköping University medical dissertations” Keratinocytes and adipose-derived stem cells can effectively heal difficult skin wounds.
35 citations
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August 2006 in “Molecular genetics and metabolism” Tissue-specific variation in mutant load complicates genetic counseling and prenatal diagnosis.
January 2009 in “Epsilon: Revista de la Sociedad Andaluza de Educación Matemática "Thales"” A CCS patient with severe complications was successfully treated using combined therapies.
August 2022 in “Tissue Engineering Part A” Advancements in skin treatment and wound healing include promising gene therapy, 3D skin models, and potential new therapies.
2 citations
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May 2018 in “Expert opinion on orphan drugs” Newborn screening and gene therapy are expected to improve outcomes for Omenn syndrome patients.
Engineered vesicles deliver mitochondria to improve diabetic wound healing.
18 citations
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June 2018 in “Journal of Dental Research” Msx2 is essential for proper enamel formation by preventing abnormal cell transformation.
May 2013 in “Zhonghua miniao waike zazhi” Hair follicle stem cells work well with bladder matrix for bladder repair.
2 citations
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January 2008 in “International Journal of Neuroscience” A 38-year-old man was diagnosed late with Kearns-Sayre syndrome after being wrongly treated for epilepsy.
December 2022 in “American journal of medical genetics. Part A” A person got uncombable hair syndrome from two copies of chromosome 1 from their mother.
January 2024 in “Genetics in Medicine Open” Adults with Tatton-Brown-Rahman syndrome may have serious heart problems and need lifelong heart monitoring.
1 citations
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January 2013 in “Lung India” Radiological findings help distinguish LAM, PLCH, and BHD to avoid invasive tests.
November 2021 in “Research Square (Research Square)” MRI can enhance the quality and effectiveness of certain stem cells.
21 citations
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October 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” A specific gene change plus an additional mutation in the same gene cause hereditary trichilemmal cysts.
137 citations
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April 2015 in “Nature Reviews Molecular Cell Biology” Different types of stem cells with unique roles exist in blood, skin, and intestines, and this variety is important for tissue repair.
September 2012 in “대한피부과학회지” Desmocollin 1 helps maintain skin structure during fetal development.
2 citations
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February 2024 in “Nature cell biology” Mechanical forces are crucial for shaping cells and forming tissues during development.
13 citations
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September 2021 in “Communications Biology” Co5M offers a new way to observe and understand wound healing without labels.
February 2024 in “Cureus” A large scalp tumor was removed from an elderly woman, who was later diagnosed with schizophrenia.
Deleting the MAD2L1 gene is tolerated in certain mouse cancer models.
5 citations
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November 2015 in “Turk Pediatri Arsivi-turkish Archives of Pediatrics” A preterm baby's toes were saved from damage by quickly removing a thread that was cutting off circulation.
October 2024 in “Acta Biomaterialia” Collagen makes skin stiff, and preservation methods greatly increase tissue stiffness.
92 citations
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March 2016 in “Developmental Cell” Zebrafish skin regeneration relies on cell behaviors and reactive oxygen species, with antioxidants reducing and hydrogen peroxide increasing regeneration.
16 citations
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April 1978 in “Genetics Research” Mice with the ab gene have abnormal sebaceous gland development, affecting sebum production.
September 2021 in “Pediatrics in review” A baby with KID syndrome died from infections and organ failure at 18 months old.
August 2021 in “Research Square (Research Square)” StemMACS media is better for growing therapeutic stem cells.
12 citations
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January 2013 in “Indian Journal of Dermatology” Monilethrix is a rare genetic hair disorder that's hard to treat.