July 2017 in “OPAL (Open@LaTrobe) (La Trobe University)” High-throughput LC-MS screening is effective for finding new autotaxin inhibitors for asthma treatment.
16 citations
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March 2017 in “Oncotarget” SOCS3 treatment can prevent hair loss by stopping harmful immune responses.
61 citations
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December 2001 in “Journal of Investigative Dermatology” Steroid sulfatase in hair follicles may be a target for treating hair loss.
52 citations
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May 1997 in “Journal of Biological Chemistry” High ornithine decarboxylase levels may lead to hair loss and cancer by increasing CK2 activity in the nucleus.
68 citations
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August 2009 in “American Journal of Medical Genetics Part A” A new classification for trichothiodystrophy helps identify genetic causes and potential treatments.
December 2024 in “Journal of Clinical Research in Pediatric Endocrinology” 21-hydroxylase deficiency causes hormone imbalances leading to various symptoms, and diagnosis involves clinical and genetic tests.
147 citations
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August 2005 in “The Plant Cell” The TIP1 gene is crucial for normal plant cell growth in Arabidopsis.
1 citations
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September 2017 in “Zhonghua neifenmi daixie zazhi” Routine genetic testing is crucial for early diagnosis and better management of Turner’s syndrome with 21-hydroxylase deficiency.
September 2025 in “Indian Journal of Child Health” Satoyoshi Syndrome is hard to diagnose and treat due to its rarity and complex symptoms.
April 2017 in “Journal of Investigative Dermatology” A boy with Oculodentodigital syndrome had a unique GJA1 gene mutation causing his symptoms.
7 citations
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August 2017 in “European journal of endocrinology” Mutations in the POC1A gene can cause a unique form of extreme insulin resistance and short stature.
7 citations
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January 2018 in “Neurodegenerative Diseases” Researchers found a new ABCD1 gene mutation linked to a rare brain and nerve disorder with unusual brain changes.
34 citations
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September 2007 in “Experimental Dermatology” The outer layer of Merino wool is rich in sulfur proteins, making it resistant to damage.
5 citations
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January 2016 in “European Journal of Dermatology” Suplatast tosilate successfully treated a woman's systemic sclerosis symptoms.
179 citations
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June 2000 in “The American journal of pathology” The absence of functional sebaceous glands causes hair follicle destruction and scarring alopecia.
5 citations
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April 2011 in “The Lancet” Untreated congenital adrenal hyperplasia can lead to complications like stroke and needs glucocorticoid treatment.
1 citations
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October 2022 in “Veterinary pathology” Some canine hair follicle tumors contain amyloid deposits, with a protein called CK5 involved in their formation.
June 2023 in “International Journal of Research in Medical Sciences” Two brothers from Bangladesh were diagnosed with X-linked adrenoleukodystrophy, showing neurological and adrenal symptoms.
20 citations
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May 2023 in “Cancer Nanotechnology” The new drug delivery system effectively targets lung cancer cells.
October 2004 in “Australian Prescriber” Agalsidase alfa helps treat Fabry's disease but needs more research for long-term benefits.
September 2019 in “Journal of Investigative Dermatology” Scientists used stem cells to create a model of the skin disease Epidermolysis Bullosa simplex, which helped them understand its molecular mechanisms and could aid in finding treatments.
April 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” Targeting cholesterol, fatty acids, fibrosis, and mast cells may help treat CCCA.
76 citations
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June 2018 in “EMBO Reports” YAP and TAZ proteins are necessary for the development of two types of skin cancer.
3 citations
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October 1994 in “Journal of Labelled Compounds and Radiopharmaceuticals” Scientists made a carbon-14 labeled version of a drug with a 48% yield and over 99% purity.
36 citations
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March 2009 in “Molecular Carcinogenesis” Disrupting Bcl-xL in mice reduces skin cancer risk.
January 2011 in “Junshi yixue” A mouse model for studying scleroderma in chronic graft-versus-host disease was successfully created.
January 2020 in “Columbia Academic Commons (Columbia University)” Certain genetic changes in the STX17 and KRT82 genes contribute to hair loss in alopecia areata.
April 2026 in “Human Genome Variation” Long-read RNA sequencing can identify complex gene changes in IFAP syndrome.
54 citations
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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.
1 citations
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November 2011 in “Turkish Journal of Dermatology” Biotin treatment improved hair and skin issues in a child with biotinidase deficiency.