April 2023 in “World Journal of Advanced Research and Reviews” Frequent blood transfusions in beta thalassemia can lead to thyroid problems.
January 2023 in “Indian Dermatology Online Journal” Uncombable hair syndrome is linked to Zellweger syndrome.
February 2010 in “Journal of The American Academy of Dermatology” Surgery on a baby with a skin disorder improved eyelid position and eye health.
5 citations
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January 2011 in “Archives de Pédiatrie” A severe form of Netherton syndrome caused by a specific gene mutation led to neonatal deaths in a family.
2 citations
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January 2019 in “Springer eBooks” The conclusion is that different blood diseases cause specific oral symptoms and require varied treatments to manage these symptoms and improve patient health.
57 citations
,
January 2020 in “International Journal of Molecular Sciences” PADs are crucial for healthy skin and hair, and their imbalance can cause skin and hair disorders.
47 citations
,
February 2015 in “European Journal of Clinical Investigation” The review suggests thorough evaluation and genetic testing for proper diagnosis and treatment of Chrousos syndrome.
44 citations
,
June 2017 in “The EMBO Journal” LPA3 signaling in the uterus is crucial for placental formation and fetal development.
18 citations
,
October 2021 in “Frontiers in Physiology” Lipocalin-Type Prostaglandin D2 Synthase (L-PGDS) is a protein that plays many roles in the body, including sleep regulation, pain management, food intake, and protection against harmful substances. It also affects fat metabolism, glucose intolerance, cell maturation, and is involved in various diseases like diabetes, cancer, and arthritis. It can influence sex organ development and embryonic cell differentiation, and its levels can be used as a diagnostic marker for certain conditions.
16 citations
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February 2018 in “BMC Genomics” Certain genetic markers linked to reproductive potential were identified by their impact on a protein's ability to bind to genes.
15 citations
,
July 2024 in “Current Issues in Molecular Biology” Understanding molecular processes in skin development is key to creating targeted treatments for skin disorders.
10 citations
,
January 2012 in “International Journal of Trichology” PRP helps hair growth in common hair loss disorder.
7 citations
,
July 2011 in “Survey of Ophthalmology” The document concludes that periocular hair disorders have various causes and treatments, and proper evaluation by specialists is important for management and prognosis.
4 citations
,
May 2023 in “Cells” Baricitinib and its combination with lonafarnib improve fat cell formation in certain genetic disorders.
July 2024 in “Journal of Dermatological Treatment” Botanical extracts and Minoxidil improved hair condition in a boy with a genetic disorder.
August 2023 in “Medicina-lithuania” Abusing steroids can damage your heart, muscles, reproductive system, liver, skin, and brain, and may increase the risk of Alzheimer's disease.
December 2022 in “International journal of preventive, curative & community medicine” PCOS is a common hormonal disorder in women, causing symptoms like acne and irregular periods, and is managed with medication and lifestyle changes.
February 2019 in “Neoreviews” The infant with a urea cycle disorder improved with treatment and a liver transplant.
249 citations
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November 2003 in “Clinical endocrinology” Insulin resistance is a key factor in polycystic ovary syndrome, but genetics may also contribute.
15 citations
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December 2016 in “Revista Da Associacao Medica Brasileira” Polycystic ovary syndrome is a common hormonal disorder in women, linked to increased risk of metabolic and heart diseases, and needs more research for better understanding and treatment.
3 citations
,
April 2015 in “American journal of biomedical sciences” Androgens play a key role in hair growth and disorders like baldness and excessive hairiness.
Screening for iron levels in patients with hair loss may help find a genetic iron overload condition early.
November 2018 in “International Journal of Current Pharmaceutical Research” PCOS is a hormonal disorder causing symptoms like irregular periods and acne, and increases the risk of diabetes and heart disease.
January 2017 in “International journal of science and research” Trichotillomania is a chronic hair-pulling disorder, more common in females, treated with therapy and sometimes medication.
November 2020 in “International journal of contemporary pediatrics” Two siblings had a rare immune disorder caused by a FOXN1 gene mutation.
147 citations
,
January 2003 in “American journal of clinical dermatology” The document concludes that accurate diagnosis of ichthyosis is crucial for treatment and genetic advice, and ongoing research is needed for better therapies.
42 citations
,
April 2013 in “Steroids” Non-classic congenital adrenal hyperplasia is a common disorder causing symptoms like acne and infertility, and it's managed based on symptoms, not just test results. Treatment can improve fertility and reduce miscarriage risk.
32 citations
,
April 2013 in “Anais Brasileiros de Dermatologia” The document concludes that inherited epidermolysis bullosa is a challenging genetic condition requiring multidisciplinary care and new treatments.
20 citations
,
February 2017 in “International Journal of Dermatology” Platelet-based therapies using a patient's own blood show promise for skin and hair regeneration but require more research for confirmation.
3 citations
,
February 2011 in “Journal of Biomedical Research/Journal of biomedical research” A new mutation in the KRT86 gene was found to cause the hair disorder monilethrix in a Han family.