36 citations
,
September 1999 in “Journal of Cell Science” This study suggests that basonuclin may act as a tissue-specific transcription factor for ribosomal RNA genes by interacting with the promoter region necessary for high transcription levels in human keratinocytes.
19 citations
,
October 1971 in “The BMJ” Anticonvulsant drugs may cause temporary chromosomal abnormalities.
28 citations
,
October 1987 in “PubMed” This study found that treating Tradescantia stamen hair cells with LiCl disrupts mitotic progression, leading to metaphase arrest, which can be reversed by myo-inositol or CaCl2 addition.
32 citations
,
February 1998 in “The journal of investigative dermatology/Journal of investigative dermatology” This study reports the cloning and sequencing of two type II hair-specific keratin genes, ghHb1 and ghHb6, located on chromosome 12q13, which are expressed during hair growth.
2 citations
,
July 2016 in “Pharmacopsychiatry” This case report describes a non-mosaic Turner-Syndrome individual with global cerebral atrophy, significant cognitive impairment, and severe treatment-resistant schizophrenia.
8 citations
,
July 2015 in “Molecular cytogenetics” This case study describes a patient with Turner syndrome who, despite lacking many classic features, presented with multiple autoimmune diseases, suggesting a link between complex X chromosome rearrangements and increased autoimmune risk.
3 citations
,
November 2015 in “Endocrinology, Diabetes & Metabolism Case Reports” This case study reports a rare instance of RC11 associated with precocious puberty, severe hyperandrogenism, insulin resistance, and type 2 diabetes, suggesting a possible link to 11q-syndrome.
12 citations
,
September 2021 in “Stem Cell Reviews and Reports” This study suggests that StemMACS MSC Expansion Media is more suitable than PowerStem MSC1 media for expanding therapeutic adipose-derived mesenchymal stem cells, with less expression of negative markers and better chromosomal stability.
August 2021 in “Research Square (Research Square)” In this study of clinical-grade ADMSCs, researchers found that cells expanded in PowerStem MSC1 media exhibited increased negative marker expression, chromosomal abnormalities, and signs of senescence compared to those cultured in StemMACS MSC Expansion Media, suggesting that the latter is more suitable for therapeutic applications.
60 citations
,
August 2008 in “Human molecular genetics online/Human molecular genetics” This study suggests that a position effect disrupting TRPS1 expression may be linked to hypertrichosis in both Ambras syndrome in humans and a similar phenotype in Koa mice.
15 citations
,
May 2014 in “Journal of dermatology” This review suggests the existence of a new syndrome characterized by keratosis pilaris, ulerythema ophryogenes, and monosomy 18p, emphasizing its potential utility in diagnosing monosomy 18p.
This study identified a genetic locus associated with rhabdomyosarcoma susceptibility in mice and found that specific differentiation markers are linked to the regression of basal cell carcinoma.
7 citations
,
July 2018 in “Stem cell research” This study reported that reprogramming keratinocytes from plucked hair provides an easy, non-invasive, and efficient method for generating pluripotent iPSCs without the need for medical professionals or operating rooms.
13 citations
,
October 2022 in “Reproductive Biology and Endocrinology” This study demonstrated that hyaluronan gel is a promising biomaterial for 3-D in vitro culture of mouse ovarian follicles, supporting the production of fertilizable metaphase II oocytes.
10 citations
,
November 2008 in “Veterinary Dermatology” In this study, the misshaped and hairy ear phenotype in mutant mice was linked to mis-expression of certain Hoxc genes due to a chromosomal inversion.
13 citations
,
June 2012 in “European journal of medical genetics” In this study, researchers observed monochorionic diamniotic twins with discordant clinical phenotypes, where one had high-grade trisomy 12p mosaicism in certain tissues, while the other showed confined mosaicism likely due to twin-to-twin transfusion.
2 citations
,
July 2022 in “Frontiers in Veterinary Science” This case report describes a rare instance of a Chinese Crested dog with leukocyte chimerism, normal female external genitalia, and hormonally active Sertoli cell tumors, demonstrating surgery as a curative treatment option.
2 citations
,
March 2024 in “International Journal of experimental research and review” This study found that more than 14% of idiopathic recurrent early pregnancy loss cases were associated with chromosomal heteromorphisms, predominantly 9qh+, suggesting a genetic component in these unexplained cases.
7 citations
,
January 2014 in “Biological & pharmaceutical bulletin” This study found that rice bran oil extracted by supercritical CO2 can be considered non-genotoxic based on in vitro and in vivo test results, despite some chromosomal aberrations observed under specific conditions.
1 citations
,
May 2023 in “European Journal of Human Genetics” This study observed that numerical chromosomal aberrations were more common in men with severe male factor infertility and azoospermia compared to those with other sperm quality issues, while chromosomal translocations were significantly associated with oligoasthenozoospermia, highlighting important genetic counseling considerations.
5 citations
,
December 2014 in “Molecular cytogenetics” This study identified a 290 Kb microduplication in chromosome 1q22 in a family with members exhibiting neurodevelopmental disorders, suggesting a link between this genetic alteration and the observed neurological symptoms.
145 citations
,
May 2008 in “Cancer Science” This review discusses how increased gene copy number for telomerase components may contribute to telomerase up-regulation in cancer cells, although the exact mechanisms are not fully understood.
1 citations
,
October 1971 in “The BMJ” The document suggests that hair loss after stopping birth control may be similar to post-pregnancy hair loss and could recur with future pregnancies.
October 1971 in “The BMJ” Hair loss can be linked to hormonal changes, and physical conditions like heart defects can cause depression.
77 citations
,
April 2005 in “Journal of Investigative Dermatology” Repetin is a protein involved in skin and hair development, binding calcium and compensating for other proteins when needed.
12 citations
,
January 2021 in “Journal of Investigative Dermatology” This review discusses the role of telomere length dynamics in hair follicle biology and reports no new clinical findings, emphasizing the need for further research in humans.
74 citations
,
October 1998 in “Journal of biological chemistry/The Journal of biological chemistry” This study discovered nine human type I hair keratin genes, including a transcribed pseudogene, in a 190 kbp genomic region, revealing three gene subclusters based on sequence homologies.
34 citations
,
August 2002 in “British Journal of Dermatology” This study observed that two patients treated with interferon α-2b and ribavirin for chronic hepatitis C experienced complete and reversible straightening of their natural curly hair, which recurred with treatment resumption.
11 citations
,
January 2000 in “Journal of Cutaneous Pathology” This paper reviews the role of the telomere-telomerase system in cellular ageing and cancer, discussing potential therapies but reporting no new experimental results.
13 citations
,
September 2011 in “Archives of dermatology” This case report describes a 3-year-old male with X-linked ichthyosis and associated neurologic abnormalities, identifying an unusual cortical development malformation and suggesting that abnormal hair banding may assist diagnosis.