Deleting the MAD2L1 gene is tolerated in certain mouse cancer models.
1 citations,
May 2023 in “European Journal of Human Genetics” Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.
December 2023 in “Sains Malaysiana” The enzyme Rand protease works well for leather dehairing and its stability is important, with Leu75 playing a key role.
18 citations,
March 2015 in “Journal of Endocrinological Investigation” The research suggests that the ZP4 gene is linked to egg development in women with PCOS but requires more study to understand its role in infertility.
The document concludes that Syndromes of Severe Insulin Resistance are rare disorders with limited treatment options.
1 citations,
January 2015 in “Case reports in endocrinology” Women with nonclassical congenital adrenal hyperplasia may have a higher risk of fertility issues and miscarriages, and should get genetic counseling.
4 citations,
May 2023 in “Cells” Baricitinib and its combination with lonafarnib improve fat cell formation in certain genetic disorders.
186 citations,
December 2012 in “Current opinion in cell biology” Keratin proteins are increasingly recognized as important for cell health and are linked to many diseases.
June 2024 in “International Journal of Nanomedicine” CRISPR/Cas9 has improved precision and control but still faces clinical challenges.
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November 2017 in “Expert opinion on orphan drugs” Scientists now better understand the genetics of hypohidrotic ectodermal dysplasia, leading to more accurate diagnoses and potential new treatments.
66 citations,
January 2001 in “Vitamins and hormones” Androgen receptors are key for development and health, affecting conditions like prostate cancer and male pattern baldness.
7 citations,
January 1994 in “Annual Reports in Medicinal Chemistry” Understanding how androgens work is key for creating new treatments for prostate issues and hair/skin conditions.
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November 2020 in “The FASEB journal” Intermediate filaments are crucial for cell differentiation and stem cell function.
28 citations,
April 1996 in “Cell biology international” Changes in keratin affect skin health and can lead to skin disorders like blistering diseases and psoriasis.
65 citations,
September 2010 in “Journal of the Neurological Sciences” Kennedy's disease leads to muscle weakness and sensory issues, has no cure but manageable symptoms, and future treatments look promising.
144 citations,
August 2019 in “Cells” The WNT signaling pathway is important in many diseases and targeting it could offer new treatments.
36 citations,
March 2019 in “European Journal of Human Genetics” The research found genetic differences in identical twins that could explain why one twin has a disease while the other does not.
90 citations,
February 2001 in “The journal of investigative dermatology/Journal of investigative dermatology” Interleukin-1 increases keratin K6 production in skin cells.
11 citations,
July 2001 in “APMIS. Acta pathologica, microbiologica et immunologica Scandinavica./APMIS” Estrogens are key for bone growth spurts in both boys and girls and affect growth into adulthood.
78 citations,
November 2005 in “Endocrinology” Hairless protein can block vitamin D activation in skin cells.
January 2019 in “Springer eBooks” Modified HDL can better deliver drugs and genes, potentially improving treatments and reducing side effects.
54 citations,
April 2010 in “Baillière's best practice and research in clinical endocrinology and metabolism/Baillière's best practice & research. Clinical endocrinology & metabolism” Impaired androgen production in 46,XY DSDs causes ambiguous genitalia and requires long-term care.
37 citations,
April 2011 in “Journal of Biological Chemistry” LEF1 interacts with Vitamin D Receptor, affecting hair follicle regeneration and this could be linked to hair loss conditions.
29 citations,
May 2018 in “Clinical Endocrinology” Recent genetic insights show that low-renin hypertension includes a range from essential hypertension to secondary or familial forms, affecting diagnosis and treatment.
19 citations,
August 1998 in “Journal of the American Academy of Dermatology” Hair loss can signal serious health issues, not just cosmetic concerns.
Deleting the MAD2L1 gene in mice led to rapid tumor growth despite chromosomal instability.
1 citations,
November 2021 in “Biomedicines” Understanding how acne develops in different diseases could lead to new treatments.
218 citations,
September 2012 in “Gastroenterology” Colorectal cancer development involves both genetic changes and epigenetic alterations like DNA methylation and microRNA changes.
438 citations,
October 2010 in “Oncogene” Keratins help protect cells, aid in cancer diagnosis, and influence cancer behavior and treatment.
173 citations,
May 2001 in “Human reproduction update” Oestrogens are key for bone growth during puberty in both boys and girls.