189 citations,
July 2009 in “The Journal of clinical investigation/The journal of clinical investigation” Epidermolysis bullosa simplex causes easily blistered skin due to faulty skin cell proteins, leading to new treatment ideas.
99 citations,
May 1998 in “Journal of biological chemistry/The Journal of biological chemistry” Small proline-rich proteins and trichohyalin help make epithelial tissues tougher and more flexible.
79 citations,
January 2018 in “Wiley Interdisciplinary Reviews-Developmental Biology” Understanding how baby skin heals without scars could help develop treatments for adults to heal wounds without leaving scars.
18 citations,
April 2016 in “The journal of immunology/The Journal of immunology” Thymic mesenchymal cells have unique gene expression that supports their specific functions in the thymus.
6 citations,
August 2022 in “The Italian Journal of Pediatrics/Italian journal of pediatrics” New genetic mutations linked to rare skin disorders were found in three newborns.
4 citations,
December 2022 in “Frontiers in Endocrinology” Treating non-classic congenital adrenal hyperplasia is complex because the benefits of hormone treatment must be weighed against potential health risks.
1 citations,
November 2013 in “Actas dermo-sifiliográficas/Actas dermo-sifiliográficas” Experts met to improve care for ichthyosis patients in Spain.
September 2022 in “Annals of medicine and surgery” Three siblings with a rare genetic condition had abnormal sexual development and chose different gender identities, needing surgery and therapy.
112 citations,
January 2004 in “The International journal of developmental biology” Feather patterns form through genetic and epigenetic controls, with cells self-organizing into periodic patterns.
21 citations,
July 2022 in “Orphanet journal of rare diseases” New treatments for ichthyosis, like protein replacement and gene therapy, show promise and may become standard care.
8 citations,
January 2023 in “Biosensors” Piezoelectric Nanogenerators are promising for non-invasive health monitoring but need efficiency and durability improvements.
6 citations,
December 2015 in “International journal of immunopathology and pharmacology” AE can have varied symptoms and genetic causes, but zinc therapy helps.
6 citations,
January 2015 in “Journal of regenerative medicine & tissue engineering” The review concludes that innovations in regenerative medicine, tissue engineering, and developmental biology are essential for effective tissue repair and organ transplants.
3 citations,
August 2023 in “Genes” The document concludes that various signaling pathways and genetic factors are crucial for chicken feather development, affecting poultry quality.
1 citations,
May 2023 in “European Journal of Human Genetics” Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.
March 2024 in “Biomedicines” Mesenchymal stem cells show promise for effective skin repair and regeneration.
Meis2 is essential for touch sensation and proper nerve connection to touch receptors in certain skin areas of mice.
July 2023 in “Journal of allergy and clinical Immunology. Global” A 10-month-old boy with a rare combination of genetic conditions has severe immune deficiency and treatment challenges.
April 2023 in “Clinical Chemistry and Laboratory Medicine” The document concludes that inflammation markers can be used in diabetes, vitamin D3 affects immune pathways, hyperthyroidism changes hormone levels, androgen levels help diagnose Adrenocortical Carcinoma, erectile dysfunction is linked to diabetes, hypogonadism is common in HIV-infected males, and hormones can be biomarkers for various conditions.
August 2022 in “IntechOpen eBooks” Congenital Adrenal Hyperplasia is a rare inherited disease causing hormone imbalances, affecting growth, fertility, and heart health, diagnosed through blood tests and treated with medication and lifestyle changes.
3 citations,
May 2010 in “Nursing Standard” Treatments for autoimmune hair loss have limited success and often relapse, and emotional support is crucial for those affected.
1 citations,
May 2010 in “Nursing Standard” Treatments for autoimmune hair loss have limited success and patients need emotional support and self-acceptance.
31 citations,
May 2008 in “Drug Discovery Today: Disease Mechanisms” Different hair growth problems are caused by genetic issues or changes in hair growth cycles, and new treatments are being developed.
6 citations,
January 2014 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” Three siblings with a genetic form of rickets showed different symptoms of the disease.
1 citations,
January 2023 in “International journal of all research education and scientific methods” Hair analysis is better than urine and blood for detecting past drug use.
8 citations,
May 2013 in “Journal of Investigative Dermatology” Different problems with hair stem cell renewal can lead to hair loss.
32 citations,
March 2021 in “Journal of endocrinological investigation” Thyroid hormones are important for skin health and changes in them can affect conditions like hair loss and eczema.
10 citations,
October 2018 in “JDDG Journal der Deutschen Dermatologischen Gesellschaft” Most skin conditions in Down syndrome are benign and involve dry or thickened skin.
30 citations,
May 2004 in “Journal der Deutschen Dermatologischen Gesellschaft” The document concludes that early diagnosis and treatment are crucial for children with hair loss to prevent permanent damage, although not all conditions can be effectively treated.
5 citations,
November 2011 in “Expert Review of Dermatology” The document concludes that early diagnosis and a comprehensive treatment plan are crucial for managing hair loss in children, with a focus on both medical and psychological support.