35 citations
,
August 2021 in “npj Regenerative Medicine” Fibroblasts, cells usually linked to tissue repair, also help regenerate various organs and their ability decreases with age. Turning adult fibroblasts back to a younger state could be a new treatment approach.
35 citations
,
August 2010 in “The American journal of pathology” Researchers created a new mouse model for studying Citrullinemia Type I and similar conditions, showing symptoms and treatment responses like those in humans.
33 citations
,
September 2017 in “Journal of clinical immunology” New treatments for immune disorders caused by FOXN1 deficiency are promising.
28 citations
,
October 2013 in “Journal of The American Academy of Dermatology” Ovarian SAHA syndrome makes women with PCOS more resistant to insulin and increases their risk of blood sugar problems.
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 2019 in “Genes” The study concludes that mutations in the AEBP1 gene can cause a form of Ehlers-Danlos syndrome and should be considered in diagnosis.
18 citations
,
June 2017 in “Journal of The American Academy of Dermatology” Trichoscopy helps diagnose frontal fibrosing alopecia, even with unusual patterns.
16 citations
,
September 2008 in “Dermatologic Therapy” CAH is a genetic disorder affecting cortisol production and causing hormonal imbalances, with treatment and diagnosis varying by form and symptoms.
15 citations
,
October 2018 in “Reproductive Biomedicine Online” Measuring the distance from the anus to the clitoris may moderately help diagnose polycystic ovary syndrome, especially in certain cases.
15 citations
,
January 2013 in “European Journal of Pediatrics” Patients with Shwachman-Diamond syndrome often get misdiagnosed due to a wide range of symptoms, including immune system problems and bone abnormalities.
12 citations
,
March 2015 in “Pediatric Dermatology” Early diagnosis and treatment of PCOS in young people is important to prevent long-term health problems.
10 citations
,
February 2008 in “Photochemistry and photobiology” Vitamin D receptor can control the hairless gene linked to hair loss even without vitamin D.
9 citations
,
November 2019 in “Cell calcium” The STIM1 R304W mutation in mice leads to bone changes and teeth hair growth.
8 citations
,
January 2009 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” A specific thyroid hormone resistance mutation may be linked to different types of hair loss.
7 citations
,
October 2017 in “The Prostate” Baldness in men with prostate cancer is linked to higher levels of certain sex hormones, but chest hair density is not.
6 citations
,
January 2020 in “BMC Medical Genetics” A new mutation in the STS gene causes X-linked ichthyosis, even in rare female cases.
6 citations
,
June 2018 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” Patients with the same genetic mutation for vitamin D-resistant rickets showed different symptoms but all improved with treatment except for hair loss.
5 citations
,
March 2015 in “Women's Health” The document concludes that diagnosing PCOS requires a thorough approach, considering various symptoms and risks, and calls for improved methods to identify PCOS types and prevent diabetes.
4 citations
,
November 2016 in “Pediatric Clinics of North America” The document explains the difficulty in diagnosing and treating brain diseases caused by the immune system and stresses the need for quick and accurate tests.
4 citations
,
June 2013 in “The Journal of Rheumatology” The document concludes that various findings in rheumatology offer insights into disease severity, treatment responses, and potential risks in medication, with some limitations due to unspecified participant numbers.
3 citations
,
January 2019 in “Journal of Dermatology” The p.P25L mutation in the KRT5 gene causes a rare skin condition that worsens over time and may lead to hair loss starting in young adulthood.
3 citations
,
November 2013 in “Journal of Stem Cells and Regenerative Medicine” Imaging intestinal stem cells might help detect early signs of colorectal cancer.
A rare genetic mutation causes Woodhouse-Sakati syndrome symptoms.
February 2026 in “Scientific Reports” The model effectively mimics radiation-induced skin damage for future research.
September 2024 in “Egyptian Journal of Medical Human Genetics” Consider NF1 in newborns with rare congenital anomalies.
March 2024 in “Frontiers in endocrinology” A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.
January 2024 in “Archives of Endocrinology and Metabolism” A new gene mutation causes insulin resistance in a girl and her mother.
PCOS requires personalized treatment to improve life quality and reduce health risks.
October 2023 in “Case reports in dermatological medicine” A Jordanian family with Clouston syndrome has a common GJB6 gene mutation.
September 2023 in “Reproductive health of woman” PCOS is common, affects fertility, and requires personalized treatment to manage symptoms and health risks.