October 2023 in “Open Repository of the University of Porto (University of Porto)” Pharmacists play a crucial role in patient care and optimizing treatment outcomes.
July 2020 in “Scholarly Journal of Psychology and Behavioral Sciences” The pandemic highlighted the need for accurate information, vaccine development, and adapting to new routines while managing stress and misinformation.
6 citations
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September 2014 in “Journal of the American Academy of Dermatology” Researchers found a potential new type of skin growth called follicular mucinous nevus.
January 2026 in “American Journal of Medical Genetics Part A” A new genetic variant causes trichothiodystrophy in two brothers, but their mother may carry it without showing symptoms.
18 citations
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January 2011 in “International journal of trichology” Hair casts, also called pseudonits, are often mistaken for other conditions.
3 citations
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November 1977 in “JAMA” Hair casts can be mistaken for lice, causing unnecessary stress.
September 2024 in “The Journal of Dermatology” Nevus comedonicus can sometimes grow terminal hair, challenging previous beliefs.
1 citations
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October 2023 Syntax-based neural networks can match Transformers in handling unseen sentences.
Defective protein folding due to a mutation is key in ANE syndrome.
1 citations
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January 1992 in “DNA sequence” Researchers found a non-functional sheep keratin gene due to mutations.
December 2025 in “Meditsinskiy sovet = Medical Council” Early diagnosis and multidisciplinary care are crucial for managing CNOT3 syndrome.
April 2017 in “IOSR journal of dental and medical sciences” Netherton Syndrome is a non-treatable genetic disorder in children causing skin, hair, and allergy issues.
March 2025 in “American Journal of Medical Genetics Part A” A rare genetic variant linked to skin cysts was found in blood DNA, suggesting its role in cyst formation.
44 citations
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January 1999 in “Dermatology” Nevus comedonicus is a rare skin condition with grouped open pores, sometimes linked to other body issues.
ANE syndrome is caused by a mutation in the RBM28 protein that disrupts ribosome assembly.
January 2024 in “Wiadomości Lekarskie” Nemesis journal highlights the value of negative results in science and offers free access to all.
2 citations
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May 1991 in “PubMed” Nevus comedonicus is a rare skin condition causing dark bumps, treatable with retinoic acid or surgery.
9 citations
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April 1985 in “Archives of Dermatology” Recognizing the "bamboo hair defect" is crucial for diagnosing Netherton's syndrome.
A 12-year-old girl was misdiagnosed with alopecia areata but actually had a nevus sebaceus with a genetic mutation.
2 citations
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March 2024 in “Pediatric Dermatology” Two siblings have a rare hair condition caused by a new genetic variant.
January 2023 in “Indian dermatology online journal” A child with ectodermal dysplasia-syndactyly syndrome has a new mutation in the NECTIN4 gene.
27 citations
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July 2013 in “Journal of Investigative Dermatology” Revertant cell therapy shows promise for treating type XVII collagen deficiency, but better cell selection methods are needed.
20 citations
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October 2005 in “Archives of Dermatological Research” 2 citations
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August 2014 in “Journal of dermatological science” Adapalene 0.1% effectively reduces acne by decreasing comedones and altering skin properties.
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Skin organoids with NCSTN mutation show changes in hair follicle development and higher inflammation, key features of Hidradenitis Suppurativa.
4 citations
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March 1999 in “International Journal of STD & AIDS” Netherton's syndrome can cause frequent bacterial infections beyond just skin issues.
59 citations
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January 2010 in “International Journal of Pediatric Endocrinology” NonClassic Congenital Adrenal Hyperplasia is a less severe form of a genetic disorder affecting adrenal gland function.
36 citations
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July 1996 in “The journal of investigative dermatology/Journal of investigative dermatology” Mice with the 'lanceolate hair' mutation have abnormal hair and skin similar to human Netherton's syndrome.
October 2017 in “The Indian Journal of Animal Sciences” The prolactin gene polymorphism doesn't affect cashmere quality in these goats.