8 citations
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November 2009 in “The Neurologist/The neurologist” If someone has scaly skin, muscle stiffness, and intellectual disability, doctors should consider Sjogren-Larsson Syndrome, but other conditions if more symptoms are present.
23 citations
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March 2017 in “Journal of Investigative Dermatology” An artificial lipid barrier can restore hair growth in cases of SCD1 deficiency.
54 citations
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December 2011 in “American Journal Of Pathology” A Gsdma3 mutation causes hair loss due to stem cell damage from skin inflammation.
July 2018 in “Kidney international” Genetic testing for EGFR mutations is crucial in similar cases.
March 2008 in “The FASEB Journal” Neurosteroid withdrawal increases α4 subunit expression in the hippocampus, which may relate to catamenial epilepsy in women.
2 citations
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July 2019 in “Indian dermatology online journal” A 17-year-old girl and her brothers have a rare hair condition with long eyelashes, thick eyebrows, and easily pluckable hair.
April 2018 in “Journal of Investigative Dermatology” Higher levels of nidogen1 and type IV collagen are found in basal cell carcinoma compared to normal skin.
39 citations
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December 2001 in “JNCI: Journal of the National Cancer Institute” Using a gene therapy with the Sonic Hedgehog gene helps mice regrow hair faster after losing it from chemotherapy.
1 citations
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November 2016 in “Congenital Anomalies” Get head MRI for babies with achondroplasia early, use free immunoglobulin light chains to detect certain neurodevelopmental disorders, and video calls work for speech therapy in patients with facial anomalies.
85 citations
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May 2009 in “Hippocampus” Progesterone helps adult male mice grow more neurons and improves memory.
46 citations
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November 2014 in “The Journal of Clinical Endocrinology & Metabolism” Men with isolated hypogonadotropic hypogonadism have partial steroid deficiencies, while those with panhypopituitarism have severe deficiencies.
28 citations
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July 1980 in “British Journal of Dermatology” The hair disorder was caused by abnormal protein formation, making hair easily damaged.
Neuropeptides affect hair growth and could be used to control it.
1 citations
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December 2021 in “Development & Reproduction” Lack of FPR2 slows hair growth by affecting hair cell activity.
37 citations
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October 2006 in “Archives of Biochemistry and Biophysics” A unique gene mutation causes vitamin D-resistant rickets without causing hair loss.
August 2019 in “International journal of contemporary pediatrics” A child with a rare type of rickets showed some improvement with high doses of vitamin D, but such conditions often respond poorly to treatment.
10 citations
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May 2014 in “The Journal of Steroid Biochemistry and Molecular Biology” Allopregnanolone increases KCC2 expression in baby male rats' brains, while finasteride doesn't affect it.
November 2022 in “Journal of the Endocrine Society” A 13-year-old girl's masculine symptoms improved after surgery for a rare adrenal tumor that produced male hormones.
December 2021 in “Research Square (Research Square)” S100A4 and NMIIA promote tumor growth in glioblastoma by enhancing blood vessel functions.
12 citations
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February 1986 in “PubMed” Injecting newborn mice with a niacin blocker caused skin, gut, and brain damage similar to human pellagra.
19 citations
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August 1999 in “European journal of endocrinology” The study concluded that testing hormone levels after stimulation is not reliable for identifying carriers of 21-hydroxylase deficiency; genetic testing is necessary.
2 citations
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April 2024 in “Journal of Dermatological Science” Necrosulfonamide helps hair grow by blocking a protein linked to hair loss.
4 citations
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January 1970 in “Journal of Bangladesh College of Physicians and Surgeons” Early diagnosis and genetic counseling are crucial for managing adrenoleukodystrophy.
27 citations
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April 2011 in “Folia Histochemica et Cytobiologica” DHT deficiency can disrupt cell connections in rat testes, possibly affecting fertility.
3 citations
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May 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Skin lesions in Carney Complex are caused by a gene change in some skin cells that leads to increased pigmentation and may lead to tumors.
April 2024 in “Biosaintifika Journal of Biology & Biology Education” SH-MSCs can improve hair growth by balancing gene expressions in fluconazole-related hair loss.
April 2020 in “Journal of the Endocrine Society” A 14-year-old girl with no menstrual period was diagnosed with Swyer Syndrome and treated for a related cancer risk.
42 citations
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September 2000 in “British Journal of Dermatology” Some children are born with unusually short, fine hair because their hair growth phase is short, but this often gets better by itself during puberty.
January 2019 in “Global Dermatology” Genetic hair shaft abnormalities can be seen with microscopes and often affect scalp hair.
4 citations
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June 1998 in “The Journal of Clinical Endocrinology & Metabolism” KGF and its receptor are found in enlarged prostate tissue and KGF strongly increases cell growth.