28 citations,
November 2018 in “American Journal of Medical Genetics Part A” ODC1 gene mutations cause a neurodevelopmental disorder with large head size, hair loss, and facial abnormalities.
11 citations,
September 2021 in “American Journal of Medical Genetics Part A” Four new cases of Bachmann-Bupp syndrome suggest potential for targeted treatment.
December 2016 in “British Journal of Dermatology” The meeting highlighted the importance of genetic testing and multidisciplinary approaches in pediatric dermatology.
144 citations,
March 2013 in “Circulation Research” K_ATP channel gene mutations are linked to heart diseases, but more research is needed to understand the connection and treatment potential.
118 citations,
October 2013 in “Trends in Genetics” The AUTS2 gene is linked to neurological disorders and may affect human brain development and cognition.
68 citations,
March 2018 in “Biomaterials” Tiny needles with valproic acid can effectively regrow hair.
43 citations,
December 2013 in “Seminars in Cell & Developmental Biology” Genetic mutations can cause hair growth disorders by affecting key genes and signaling pathways.
36 citations,
January 2012 in “International Journal of Trichology” Losing eyelashes or eyebrows can be a sign of many different health problems and needs a careful approach to treat effectively.
26 citations,
December 2011 in “Journal of Investigative Dermatology” New gene identification techniques have improved the understanding and classification of inherited hair disorders.
20 citations,
February 2003 in “Facial Plastic Surgery” Treat adult facial vascular anomalies with lasers, surgery, or observation, depending on the patient's specific condition.
16 citations,
July 2021 in “Histopathology” New markers and pathways have been found in skin tumors, helping better understand and diagnose them.
11 citations,
July 2012 in “Current Opinion in Pediatrics” Skin problems can be signs of hormone-related disorders and recognizing them early is important for treatment.
7 citations,
May 2019 in “European Journal of Human Genetics” BMP4-related anomalies can cause a wide range of eye, brain, and hand/foot problems, and new cases show this variability.
6 citations,
February 2022 in “The journal of neuroscience/The Journal of neuroscience” Deleting the PTEN gene in mice causes nerve cells to grow larger and heal better after injury, but may cause overgrowth and hair loss in older mice.
2 citations,
January 2019 in “Medizinische Genetik” The document reports findings on genetic research, including ethical concerns about genome editing, improved diagnosis of mitochondrial mutations, solving inherited eye diseases, confirming gene roles in epilepsy, linking a gene to aneurysms, and identifying genes associated with age-related macular degeneration.
November 2019 in “Harper's Textbook of Pediatric Dermatology” The document is a detailed medical reference on skin and genetic disorders.
July 2016 in “American Journal of Dermatopathology” The meeting showcased rare skin disease cases, highlighting the need for accurate diagnosis and treatment.
November 2013 in “John Wiley & Sons, Ltd eBooks” Skin symptoms can indicate endocrine disorders and have various treatments.
May 2012 in “Research and reports in neonatology” The newborn with Klippel-Trénaunay syndrome was healthy but needed regular check-ups for possible complications.
September 2009 in “Pediatric Dermatology” UVB is good for a skin condition in Asian kids, a lotion works for head lice, a drug helps with a skin blistering disorder, a foam reduces itchiness in skin inflammation, birthmarks can be more widespread, and criteria for a neurocutaneous disorder were agreed upon.
December 2017 in “Springer eBooks” Treat pediatric skin issues with accurate diagnosis, multidisciplinary team, and various treatment options.
10 citations,
November 2018 in “The Italian Journal of Pediatrics/Italian journal of pediatrics” Early diagnosis of Trichorhinophalangeal syndrome type 1 is crucial for treatment and was achieved through clinical examination and family history.
148 citations,
May 2012 in “The American Journal of Human Genetics” Cantú syndrome is caused by mutations in the ABCC9 gene.
1 citations,
December 2019 in “Frontiers in endocrinology” Higher androgen levels during puberty are linked to shorter adult height in boys with Silver-Russell syndrome.
January 2024 in “Genetics in Medicine Open” Adults with Tatton-Brown-Rahman syndrome may have serious heart problems and need lifelong heart monitoring.
49 citations,
November 2021 in “Annual review of pathology” Lysophospholipids like LPA and S1P are important for hair growth, immune responses, and vascular development, and could be targeted for treating diseases.
36 citations,
January 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” The document concludes that understanding genetic mutations in the PI3K-AKT-mTOR pathway can lead to better diagnosis and treatment for certain genetic skin disorders.
35 citations,
December 2009 in “Lupus” Anti-Ro exposed children had more reported neuro-psychiatric issues, but differences from healthy controls were not significant.
5 citations,
July 2017 in “International journal of endocrinology and metabolism/International journal of endocrinology and metabolism.” Two siblings with a genetic mutation had a form of rickets that doesn't respond to vitamin D.
1 citations,
July 2023 in “Communications biology” Removing Mediator 1 from certain mouse cells causes teeth to grow hair instead of enamel.