34 citations,
April 1973 in “The American journal of clinical nutrition” Not enough vitamin B6 in pregnant rats' diets caused poor development and health in their babies.
15 citations,
May 2014 in “Journal of dermatology” Zouboulis syndrome is a rare condition that helps diagnose monosomy 18p early.
2 citations,
January 1998 in “Dermatology” Stopping forehead irritation and using hydrocortisone helped a man's skin, Martinique has lower melanoma rates, a man had an allergy to a specific antifungal, another had unexplained cysts, certain drugs can cause skin reactions without always being interrelated, a link between Fanconi anemia and a skin condition was suggested, high levels of a certain protein may play a role in a type of psoriasis, and there's a need to study the connection between scalp pain and hair loss.
11 citations,
November 2021 in “JBMR plus” The vitamin D receptor can act without its usual activating molecule, affecting hair growth and skin cancer, but its full range of actions is not well understood.
Additional surgeries are often needed to fix facial issues in patients with orofacial clefts.
7 citations,
July 1975 in “Acta dermato-venereologica” A patient with Rothmund-Thomson syndrome showed skin changes, hair loss, and dental defects but no cataracts or skeletal issues.
16 citations,
July 2019 in “Journal of Cellular Biochemistry” Wnt7a protein is crucial for development and tissue maintenance and plays varying roles in diseases and potential treatments.
21 citations,
June 1990 in “British Journal of Dermatology” Systemic retinoids are effective for psoriasis but have side effects; benefits may outweigh risks, especially when reducing cancer risks from other treatments.
53 citations,
January 2011 in “Diabetes” People with PCNT mutations often develop severe insulin resistance and early-onset diabetes during childhood or adolescence.
53 citations,
October 2014 in “Free radical biology & medicine” Defective mitochondrial DNA replication causes aging symptoms and increased oxidative damage in mice.
November 2016 in “Elsevier eBooks” Genetic mutations can affect female sexual development, requiring personalized medical care.
November 2014 in “Elsevier eBooks” Gene mutations can cause problems in male genital development.
September 2021 in “Research Square (Research Square)” Not having enough or having too much of the protein Grainyhead-like 3 leads to various developmental problems.
5 citations,
January 2017 in “Endocrinology” Genetic defects in testosterone production can cause hormonal and developmental disorders, and more research is needed to understand androgen regulation and develop safer treatments.
151 citations,
June 2010 in “Endocrinology and metabolism clinics of North America” Two rare genetic diseases cause severe rickets in children due to defects in vitamin D metabolism.
694 citations,
April 2000 in “Nature genetics” Msx2 deficiency in mice leads to bone growth and organ development problems.
66 citations,
January 2017 in “Acta dermato-venereologica” Isotretinoin's effects and side effects, like birth defects and depression, might be due to it causing cell death in various cells.
4 citations,
March 2002 in “International journal of toxicology” LAAM caused developmental toxicity in tolerant rats without causing birth defects.
1 citations,
January 2014 in “Elsevier eBooks” Melanocytes produce melanin; their defects cause vitiligo and hair graying, with treatments available for vitiligo.
December 2022 in “Nature Communications” Bead-jet printing of stem cells improves muscle and hair regeneration.
53 citations,
October 1993 in “Drug Safety” Oral retinoids can cause side effects ranging from mild to severe, including birth defects, and require careful monitoring and contraception.
28 citations,
November 2019 in “Gene” The ITGB6 gene is important for tissue repair and hair growth, and mutations can lead to enamel defects and other health issues.
42 citations,
May 2016 in “Annual Review of Cell and Developmental Biology” Fat cells are important for tissue repair and stem cell support in various body parts.
480 citations,
August 2014 in “Nature Biotechnology” Changing the environment around stem cells could help tissue repair, but it's hard to be precise and avoid side effects.
54 citations,
April 2010 in “Baillière's best practice and research in clinical endocrinology and metabolism/Baillière's best practice & research. Clinical endocrinology & metabolism” Impaired androgen production in 46,XY DSDs causes ambiguous genitalia and requires long-term care.
21 citations,
June 2010 in “Anais Brasileiros De Dermatologia” The document reports the first Brazilian case of a girl with Becker nevus syndrome, characterized by skin changes, breast underdevelopment, and scoliosis.
19 citations,
March 2021 in “Experimental and Therapeutic Medicine” Isotretinoin can cause serious birth defects and needs careful use, especially in pregnant women.
March 2024 in “Frontiers in endocrinology” A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.
1308 citations,
March 1998 in “Journal of bone and mineral research” The vitamin D receptor is crucial for bone health and affects various body systems, with mutations potentially leading to disease.
75 citations,
June 1999 in “Pediatric Clinics of North America” The document concludes that early recognition and treatment of PCOS in adolescents is crucial for managing symptoms and long-term health risks.