87 citations
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March 2014 in “Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids” Cholesterol sulfate buildup due to a genetic mutation disrupts the skin barrier, leading to the scaling skin seen in X-linked ichthyosis.
8 citations
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November 2018 in “Australasian Journal of Dermatology” Frontal fibrosing alopecia in families shows similar signs to individual cases and may have a genetic link.
4 citations
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April 2021 in “Experimental and Molecular Medicine” The conclusion is that certain genetic factors and blood types may affect COVID-19 severity, but changes in ACE2 and TMPRSS2 genes are not clearly linked to it.
3 citations
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April 2025 in “Nature Communications” GIANT improves brain imaging by using genetics to better map brain regions.
1 citations
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August 2021 in “Canadian journal of neurological sciences” Woodhouse-Sakati syndrome can cause writer's cramp and other varied symptoms, highlighting the importance of genetic testing for diagnosis.
October 2020 in “Revista médica sinergía/Revista médica sinergia” Alopecia areata is a complex condition causing hair loss, linked to genetics and immune system issues, and may be related to other autoimmune diseases; treatments vary in effectiveness.
January 2015 in “Springer eBooks” Hair health is influenced by genetics, aging, and environmental factors, with proper care needed to maintain it.
151 citations
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December 2004 in “Annals of the New York Academy of Sciences” Congenital Adrenal Hyperplasia is a genetic disorder with two forms, causing symptoms like early puberty and severe acne, but can be identified through screening and treated with glucocorticoids.
55 citations
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August 2008 in “Reviews in endocrine and metabolic disorders” Nonclassic adrenal hyperplasia is a genetic condition that can cause early puberty and fertility problems, treated with specific steroids.
36 citations
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July 2014 in “Neuromuscular Disorders” A patient with a larger than usual genetic mutation had a broader range of symptoms for a muscle disease.
20 citations
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June 2010 in “Genes and Immunity” Blood tests can help understand the genetic differences in people with alopecia areata, including how severe it is and if it's inherited.
Combined finasteride and anastrozole therapy effectively treats BPH, influenced by hormone imbalances and genetics.
January 2025 in “Dermatology Reports” Early and accurate diagnosis is crucial for managing rare genetic disorders like this localized variant of junctional epidermolysis bullosa.
August 2023 in “Acta Scientific Paediatrics” A baby from an Indian family had a rare genetic disorder causing no scalp or body hair due to a specific gene deletion.
February 2023 in “EAS Journal of Medicine and Surgery” Most Idoma people have a curved hairline due to genetics.
January 2021 in “Research Square (Research Square)” Chinese fine-wool sheep have genetic variations linked to traits like milk and health, with some genes under strong selection.
April 2020 in “Journal of evolution of medical and dental sciences” A one-year-old child with a genetic condition had symptoms improved by treating zinc deficiency.
November 2020 in “Journal of The American Academy of Dermatology” The conclusion is that many small genetic variations influence claw disorders in cows, and using genomic selection could help reduce these disorders.
1 citations
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November 2015 in “Indian Journal of Clinical Biochemistry” The conference presented findings on how vitamin D levels, genetic factors, and lifestyle choices like smoking and yoga affect various health conditions and diseases.
32 citations
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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.
1 citations
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October 2025 in “Scientific Reports” Mandarin duck sail feathers change with seasons due to hormones and genetic regulation.
1 citations
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November 2018 in “Elsevier eBooks” The document concludes that transplantology has evolved with improved techniques and materials, making transplants more successful and expanding the types of transplants possible.
January 2025 in “Turkish Journal of Cerebrovascular Diseases” CARASIL can cause different symptoms even with the same genetic mutation.
124 citations
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June 2002 in “Best Practice & Research Clinical Endocrinology & Metabolism” Polycystic Ovary Syndrome likely starts in childhood and may be genetic and influenced by early hormone exposure.
103 citations
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March 2011 in “PLoS Biology” Birds can lose neck feathers due to a genetic change that increases a gene's activity, helping them adapt to heat.
7 citations
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January 2017 in “American Journal of Biological Anthropology” Sardinians were historically short due to a mix of genetics and factors like disease and poor nutrition, but recent height increases suggest better living conditions had a bigger impact.
December 2025 in “ADMET & DMPK” Personalized treatments for hair loss focus on specific genetic and biological pathways.
November 2019 in “Harper's Textbook of Pediatric Dermatology” The document is a detailed medical reference on skin and genetic disorders.
74 citations
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March 2001 in “Seminars in Cutaneous Medicine and Surgery” The document concludes that skin biopsies, genetic and environmental factors, and specific treatments are important in managing cutaneous lupus erythematosus.
6 citations
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March 2016 in “PLoS ONE” The patient's hair was thinner and had fewer lipids due to a genetic mutation.