18 citations
,
February 2010 in “Odontology” The document concludes that Rabson-Mendenhall syndrome requires novel treatments for insulin resistance and emphasizes the importance of dental care in affected patients.
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.
April 2024 in “bioRxiv (Cold Spring Harbor Laboratory)” Removing Sprouty genes in mice causes various hormone-related issues but does not increase cancer risk by one year of age.
September 2023 in “Frontiers in bioengineering and biotechnology” JAGGED1 could help regenerate tissues for bone loss and heart damage if delivered correctly.
August 2018 in “Pediatric Dermatology” A baby had a unique skin condition with a pale patch and surrounding dark hairs, not linked to other health issues.
April 2018 in “Journal of Investigative Dermatology” Hair pattern in androgenetic alopecia overlaps with scalp and bone demarcations, with distinct gene profiles affecting susceptibility.
46 citations
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January 2010 in “The journal of investigative dermatology/Journal of investigative dermatology” Mice lacking Insig proteins had hair growth problems due to cholesterol buildup, but this was fixed by the drug simvastatin.
January 2022 in “Acta dermatovenerologica Alpina, Pannonica et Adriatica (Tiskana izd.)” Uncombable hair syndrome causes frizzy hair and can affect the nervous system, eyes, and ears, often co-occurring with other hair, skin, nail, and teeth conditions, and is linked to three specific gene mutations.
38 citations
,
November 2012 in “Expert Opinion on Drug Safety” Common acne treatments can cause various side effects, like skin irritation and more serious issues, but combination therapies are often more effective and better tolerated.
32 citations
,
November 2016 in “Journal of Dental Research” Pannexin 3 is important for bone formation and the development of bone cells.
10 citations
,
May 2018 in “Forensic Science International” Shrunken heads retain some facial features and hair characteristics, allowing for limited individual identification.
2 citations
,
January 2013 in “Elsevier eBooks” The document explains the genetic causes and characteristics of inherited hair disorders.
2 citations
,
February 2007 in “Plastic and Reconstructive Surgery” The book "Plastic Surgery, 2nd Edition" is a valuable, comprehensive resource for plastic surgeons.
The document concludes that the development of certain tumors is influenced by genetic background and that a specific gene modification can lead to tumor regression and reduced growth.
March 2021 in “Research Square (Research Square)” Patients with RASopathies have a higher risk of autoimmune disorders and should be routinely screened.
July 2025 in “Clinical Case Reports” A new genetic mutation in the TRPS1 gene causes Trichorhinophalangeal Syndrome, leading to specific hair, dental, and bone issues.
A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.
10 citations
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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.
2 citations
,
September 2016 in “Journal of Dermatological Science” Reduced TRPS1 leads to increased STAT3 and SOX9 in hair follicles, affecting hair growth.
9 citations
,
May 2014 in “BMC medical genetics” A woman with a unique syndrome similar to TRPS has a genetic change near the TRPS1 gene, affecting its regulation.
14 citations
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March 2016 in “Mechanisms of Development” Basonuclin 2 is vital for the development of facial bones, hair follicles, and male germ cells in adult mice, and its absence can lead to dwarfism and abnormal follicles.
3 citations
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May 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Skin lesions in Carney Complex are caused by a gene change in some skin cells that leads to increased pigmentation and may lead to tumors.
April 2026 in “Diagnostics” Parry–Romberg Syndrome can involve the brain even without obvious symptoms, and a new diagnostic framework is suggested for early detection.
694 citations
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April 2000 in “Nature genetics” Msx2 deficiency in mice leads to bone growth and organ development problems.
97 citations
,
June 2013 in “Journal of Dermatological Science” Understanding EGFR's role in skin is crucial for better treatments and managing side effects.
26 citations
,
July 2020 in “Fertility and Sterility” Male infertility and genitourinary birth defects are often linked to genetic issues.
21 citations
,
May 2024 in “American Journal of Medical Genetics Part A” Myhre syndrome symptoms worsen over time, with specific genetic variants affecting severity.
2 citations
,
January 2024 in “Revista Paulista de Pediatria” A rare genetic mutation caused severe symptoms in a 6-year-old girl with mandibuloacral dysplasia type A.
2 citations
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August 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A specific mutation in the K25 gene causes a rare genetic disorder with curly hair at birth and later hair loss, along with dental issues.
March 2025 in “FEBS Journal” Epiprofin suppresses parathyroid hormone gene activity, helping regulate calcium levels and could be a treatment target for hyperparathyroidism.