87 citations,
March 2013 in “Expert Review of Anticancer Therapy” Afatinib often causes skin problems that need proactive management.
67 citations,
April 1988 in “The Journal of Clinical Endocrinology & Metabolism” A subtle androgen receptor abnormality can allow normal male development and sometimes fertility despite partial androgen resistance.
64 citations,
March 2004 in “The journal of investigative dermatology/Journal of investigative dermatology” GPRC5D is linked to the formation of hair, nails, and certain tongue areas.
23 citations,
September 2009 in “Child Abuse & Neglect” Checking family social conditions in tourniquet syndrome cases can help find neglect.
22 citations,
January 2009 in “Medical mycology” A family got a fungal infection from a boy who had contact with rabbits, but they all recovered with treatment.
19 citations,
February 2018 in “Nutrients” Certain zinc transporters are essential for healthy skin and managing zinc in the body could help treat skin problems.
19 citations,
April 1995 in “Clinical Genetics” Two siblings were the first reported cases of inheriting both eye coloboma and loose anagen syndrome together.
12 citations,
June 2016 in “Clinical and experimental dermatology” A new genetic mutation in the TRPV3 gene causes Olmsted-like syndrome in a Mongolian family.
12 citations,
June 2012 in “Revista da Sociedade Brasileira de Medicina Tropical” A family had a rare fungal infection called white piedra, identified as Trichosporon inkin.
6 citations,
January 2017 in “Advances in Experimental Medicine and Biology” Runx genes are important for stem cell regulation and their roles in aging and disease need more research.
6 citations,
December 2004 in “Anais Brasileiros de Dermatologia” Some family members had a condition with both loose hair and unique eye changes, possibly indicating a new type of ectodermal dysplasia.
January 2024 in “American journal of clinical dermatology” Ritlecitinib is safe and well-tolerated for treating alopecia areata in patients aged 12 and older.
June 2023 in “Frontiers in Medicine” Protein tyrosine kinases are key in male pattern baldness, affecting skin structure, hair growth, and immune responses.
132 citations,
August 2012 in “Biochimica et Biophysica Acta (BBA) - General Subjects” TGF-β signaling is crucial for stem cell maintenance, differentiation, and has implications for cancer treatment.
124 citations,
October 2019 in “Frontiers in Immunology” Janus kinase inhibitors are promising treatments for autoimmune skin diseases like eczema and psoriasis.
82 citations,
February 2017 in “Cold Spring Harbor Perspectives in Biology” The TGF-β family helps control how cells change and move, affecting skin, hair, and organ development.
80 citations,
March 2004 in “Neuropediatrics” Coats' Plus is a genetic disorder with eye abnormalities, brain calcification, poor growth, bone and skin issues, and movement disorders.
68 citations,
July 2011 in “Journal of Biochemistry/The journal of biochemistry” New LPA receptors (LPA4, LPA5, LPA6) have diverse roles in the body.
54 citations,
May 2017 in “Biomedicine & Pharmacotherapy” Edible seeds from the Cucurbitaceae family like pumpkin and watermelon seeds are nutritious and may have health benefits, but eating too much can cause side effects.
48 citations,
November 2002 in “Journal of biological chemistry/The Journal of biological chemistry” Genetic variations in hair keratin proteins exist but don't significantly affect hair structure.
35 citations,
August 2006 in “Molecular genetics and metabolism” Tissue-specific variation in mutant load complicates genetic counseling and prenatal diagnosis.
23 citations,
December 2021 in “Frontiers in Immunology” IL-1 family cytokines are crucial for skin defense and healing, but their imbalance can cause skin diseases.
20 citations,
January 1998 in “Dermatology” Newborn acne may be linked to family history of high male hormone levels.
14 citations,
January 2018 in “Endocrine” Cantú syndrome may be linked to pituitary adenomas.
11 citations,
September 2010 in “American Journal of Medical Genetics - Part A” A Turkish family with sparse hair and eyebrow loss has a mutation in the U2HR gene linked to Marie Unna hereditary hypotrichosis.
9 citations,
August 2018 in “Biomedical dermatology” A peptide called DPS-1 helps human scalp cells grow and stimulates hair growth in mice.
7 citations,
June 2016 in “Bone Research” A Chinese family had a child with a specific gene mutation causing vitamin D-resistant rickets, but the child improved with calcium and low-dose calcitriol.
6 citations,
January 2015 in “Biochemical Society Transactions” The Ysc84/SH3yl1 protein family is important for cell movement and the process of taking in materials by interacting with actin and cell membranes.
3 citations,
December 2021 in “Frontiers in endocrinology” A new mutation in the DCAF17 gene was found in a Chinese family, causing Woodhouse-Sakati syndrome and diabetes.
3 citations,
February 2001 in “British journal of ophthalmology” An Australian with rare hair loss and eye conditions had a gene linked to both, not seen together before.