May 2023 in “Pharmaceuticals” Three specific mutations in the LIPH gene can cause hair loss by damaging the protein's structure and function.
July 2011 in “Journal of Pediatric and Adolescent Gynecology” A 15-year-old girl has a skin condition causing blisters on her feet, likely inherited from her family.
1 citations,
March 2019 in “KnE life sciences” HDPCM treatment healed a baby's congenital skin defect caused by varicella infection.
7 citations,
July 1975 in “Acta dermato-venereologica” A patient with Rothmund-Thomson syndrome showed skin changes, hair loss, and dental defects but no cataracts or skeletal issues.
37 citations,
November 2017 in “Medical Sciences” Melanoma's complexity requires personalized treatments due to key genetic mutations and tumor-initiating cells.
60 citations,
August 2008 in “Human molecular genetics online/Human molecular genetics” A position effect on the TRPS1 gene causes excessive hair growth in humans and mice.
Deleting the MAD2L1 gene in mice led to rapid tumor growth despite chromosomal instability.
March 2014 in “Journal of the American Academy of Dermatology” Alopecia areata is relatively common in children, has a variable course, and shows different responses to treatment; thyroid testing is recommended for those affected.
26 citations,
December 2011 in “Journal of Investigative Dermatology” New gene identification techniques have improved the understanding and classification of inherited hair disorders.
2 citations,
July 2016 in “Pharmacopsychiatry” A person with Turner Syndrome showed severe schizophrenia that didn't respond to treatment and had brain shrinkage.
May 2014 in “JAMA Dermatology” Mother and son diagnosed with a rare genetic hair loss condition with no effective treatment.
2 citations,
August 2014 in “Archivos argentinos de pediatría” A 6-year-old girl with Turner syndrome also had psoriasis, alopecia areata, and trachyonychia.
June 2008 in “Springer eBooks” The document concludes that permanent hair loss conditions are complex, require early specific treatments, and "secondary permanent alopecias" might be a more accurate term than "secondary cicatricial alopecia."
7 citations,
May 2019 in “European Journal of Human Genetics” BMP4-related anomalies can cause a wide range of eye, brain, and hand/foot problems, and new cases show this variability.
4 citations,
December 2020 in “Mammalian genome” Harlequin mutant mice have hair loss due to low AIF protein levels and retroviral element activity.
August 2018 in “Pediatric Dermatology” A baby had a unique skin condition with a pale patch and surrounding dark hairs, not linked to other health issues.
245 citations,
January 2018 in “Bone Research” TGF-β is crucial for tissue repair and can cause diseases if not properly regulated.
25 citations,
August 2014 in “Endocrinology” Researchers created a mouse model of a type of rickets that does not cause hair loss.
20 citations,
September 2005 in “Clinics in Dermatology” Some skin problems can be signs of diabetes or other metabolic diseases and recognizing them can help diagnose and treat these diseases early.
19 citations,
April 1995 in “Clinical Genetics” Two siblings were the first reported cases of inheriting both eye coloboma and loose anagen syndrome together.
The document concludes that the development of certain tumors is influenced by genetic background and that a specific gene modification can lead to tumor regression and reduced growth.
October 2007 in “Journal of Investigative Dermatology” The meeting highlighted the genetic basis of female pattern hair loss and various skin health insights.
Deleting the MAD2L1 gene is tolerated in certain mouse cancer models.
63 citations,
April 2005 in “Mechanisms of development” Mice with too much Claudin-6 have skin barrier problems and abnormal hair growth.
3 citations,
January 2023 in “Science advances” The enzymes Tet2 and Tet3 are important for skin cell development and hair growth.
188 citations,
June 1998 in “Molecular cell” Researchers created a mouse with the same mutation as humans with trichothiodystrophy, showing similar symptoms and confirming the condition is due to defects in DNA repair and gene activity.
45 citations,
November 2021 in “Fertility and Sterility” The conclusion is that women under 35 should start fertility checks after 12 months of trying to conceive, women over 35 after 6 months, and women over 40 should start immediately. The checks should include ovulation status, reproductive tract structure, and male partner's semen evaluation.
231 citations,
October 1999 in “Journal of Clinical Investigation” Activating the Sonic hedgehog gene in mice can start the hair growth phase.
March 2021 in “AACE clinical case reports” A man with both Klinefelter syndrome and primary hyperparathyroidism showed a rare combination of symptoms and genetic patterns.
25 citations,
January 2000 in “Hormone Research in Paediatrics” Mutations in the androgen receptor gene cause Androgen Insensitivity Syndrome, affecting sexual development.