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.
April 2018 in “D-Scholarship@Pitt (University of Pittsburgh)” Keratin-75 is secreted by ameloblasts in a unique way without a signal peptide.
January 2017 in “Clinical & medical biochemistry” Certain gene variations in AKT2 are more common in women with PCOS and are linked to higher levels of specific hormones and symptoms.
November 2013 in “John Wiley & Sons, Ltd eBooks” The document concludes that accurate diagnosis of male and female gonadal disorders is crucial for effective treatment and better patient outcomes.
September 2004 in “Experimental dermatology” Melatonin directly affects mouse hair follicles and may influence hair growth.
January 2001 in “Cambridge University Press eBooks” Early signs of PCOS in girls, like irregular periods and polycystic ovaries, suggest a need for early diagnosis and intervention to prevent further health issues.
November 2023 in “Global Medical Genetics” Netherton syndrome can cause severe dehydration, infections, and growth issues in infants.
118 citations
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January 2016 in “Current Topics in Developmental Biology” The document concludes that while significant progress has been made in understanding skin biology and stem cells, more research is needed to fully understand their interactions with their environment.
75 citations
,
January 2009 in “International journal of trichology” Hair grays due to oxidative stress and fewer functioning melanocytes.
68 citations
,
November 2011 in “The American journal of pathology” Abnormal Hedgehog signaling in blood cancers may help tumors grow and resist chemotherapy, suggesting potential for targeted treatments.
55 citations
,
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.
47 citations
,
April 2012 in “The Plant Journal” Phosphorylation of certain parts of the PIN3 protein is crucial for its role in plant root growth and response to gravity.
15 citations
,
May 1997 in “Annals of Internal Medicine” Tamoxifen caused hair loss in a 52-year-old woman.
14 citations
,
January 2016 in “Experimental and molecular pathology” Giving immune serum from vaccinated mice to mice without T cells prevents infection and tumor growth.
10 citations
,
November 2010 in “Pigment Cell & Melanoma Research” Only skin melanocytes, not other types, can color hair in mice.
7 citations
,
January 2021 in “Evidence-based complementary and alternative medicine” Porphyra-334 may help reduce wrinkles and promote hair growth.
2 citations
,
June 2023 in “Journal of cell science” Mutations in iRhom2 affect hair and skin in mice and are linked to esophageal cancer, with ADAM17 playing a crucial role.
1 citations
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October 2022 in “Curēus” Diagnosing simple-virilizing congenital adrenal hyperplasia can be difficult and requires thorough testing and expert advice.
September 2022 in “Institutional Repositories DataBase (IRDB)” Adipose-derived stem cells can be transformed into hair-forming cells using specific extracellular vesicles, offering potential for hair regeneration therapies.
78 citations
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May 2012 in “Journal of Investigative Dermatology” A specific gene mutation causes woolly hair and hair loss.
The mutation helps mice handle heat better without affecting hair growth.
7 citations
,
February 2024 in “The Journal of Physiology” Reduced plakoglobin and steroid abuse increase the risk of heart rhythm issues.
2 citations
,
January 2023 in “BMC plant biology” Scientists found new genetic areas that affect how rice root hairs grow and develop.
11 citations
,
September 2021 in “American Journal of Medical Genetics Part A” Four new cases of Bachmann-Bupp syndrome suggest potential for targeted treatment.
23 citations
,
January 2017 in “BMC Medical Genetics” A new CDH3 gene mutation was found in a Spanish patient with sparse hair and eye issues.
3 citations
,
January 2021 in “Molecular genetics & genomic medicine” The study found two new mutations in a Chinese patient with severe biotinidase deficiency.
69 citations
,
May 1997 in “Veterinary Pathology” The angora mouse mutation causes long hair and hair defects due to a gene deletion.
15 citations
,
August 2022 in “The Application of Clinical Genetics” ABCD1 gene mutations cause adrenomyeloneuropathy, leading to symptoms like limb weakness and spasticity, with management focusing on rehabilitation and spasticity treatment.
10 citations
,
September 2019 in “Experimental Eye Research” The enzyme RDH12 plays a role in vision and retinal disease, with mutations leading to early onset visual loss and blindness, but the exact disease mechanism is unclear and there are no treatments yet.
7 citations
,
August 2017 in “Genetic testing and molecular biomarkers” A new mutation in the FLCN gene linked to Birt-Hogg-Dube syndrome was found, suggesting people with certain lung collapse should be tested for this mutation and screened for kidney and colon cancer.