26 citations
,
June 2004 in “Clinical Genetics” The keratin 5 mutation in a family with epidermolysis bullosa simplex was due to mosaicism, not a new mutation.
2 citations
,
August 2023 in “Development” Hair follicles in the back of the rosette fancy mouse have reversed orientations due to a gene mutation.
43 citations
,
September 2001 in “Annals of Neurology” Hair root analysis can effectively detect somatic mosaicism in double cortex syndrome.
June 2025 in “British Journal of Dermatology” A rare skin condition in a boy is likely due to a specific genetic mutation pattern.
76 citations
,
January 1998 in “Mammalian Genome”
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.
52 citations
,
January 2016 in “Sexual Development” Both genetic and hormonal factors are crucial for bird sex differentiation, and disturbances can cause sex reversal.
April 2019 in “Journal of the Endocrine Society” Mosaic Klinefelter syndrome can affect male fertility and may be missed in routine tests.
20 citations
,
May 2011 in “Journal of Clinical Investigation” The study created a mouse model to mimic degenerative diseases for testing tissue repair and new therapies.
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.
2 citations
,
March 2024 in “International Journal of experimental research and review” Genetic variations contribute to over 10% of recurrent early pregnancy loss cases.
October 2019 in “European Journal of Dermatology” The boy's hair and skin color differences are due to a pigmentation disorder.
3 citations
,
January 2008 in “Journal of the American Academy of Dermatology” A patient's skin rash did not affect the area where a previous viral rash was healing, suggesting a rare immune response.
19 citations
,
February 2001 in “Journal of paediatrics and child health” A new mutation in the mitochondrial DNA was found in a boy with MELAS, even though his family didn't show typical signs.
6 citations
,
March 2007 in “BioTechniques” PCR genotyping in cre-loxP mice can be inaccurate due to unintended gene deletions in non-target tissues.
10 citations
,
September 1997 in “Molecular carcinogenesis” Mirex seems to promote a unique group of skin cells different from those affected by another tumor promoter, TPA.
29 citations
,
January 2010 in “Methods in Enzymology” The document concludes that careful design of genetic fate mapping experiments is crucial for accurate cell lineage tracing in mice.
1 citations
,
November 2021 in “Biomedicines” Understanding how acne develops in different diseases could lead to new treatments.
22 citations
,
April 2012 in “The American journal of pathology” Loss of Msx2 function causes eye development issues similar to Peters anomaly.
7 citations
,
April 2000 in “Mammalian Genome” A new mutation in mice causes crooked whiskers and messy hair.
28 citations
,
June 1998 in “Clinical Genetics” Ambras syndrome's genetic cause is unknown, as it isn't linked to androgen levels.
75 citations
,
October 2010 in “Mammalian genome” Sphynx cats are hairless and Devon Rex cats have curly hair due to specific genetic mutations.
32 citations
,
April 1994 in “Journal of the American Academy of Dermatology” High androgen levels and genetic factors likely cause Becker's nevus and related symptoms.
6 citations
,
November 2011 in “Journal of Dermatological Science” A new gene mutation may allow some piebaldism patients to regain skin color in white patches.
25 citations
,
May 2004 in “Prenatal Diagnosis” Prenatal genetic diagnosis may not predict MELAS syndrome severity in offspring.
April 2024 in “Pigment cell & melanoma research” Different types of resting melanocyte stem cells have unique characteristics and vary in their potential to become other cells.
7 citations
,
October 1985 in “Genetics Research” Beige and leaden pigment genes act within melanocytes, affecting pigment patterns.
11 citations
,
February 1982 in “Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis” A new method can detect mutations in mice by observing changes in hair follicle cells.
January 2012 in “heiDOK (Heidelberg University)” Dormant melanoma cells in mice interact minimally with memory T cells due to a suppressive tumor environment.
March 2026 in “Sexual Development” Tortoiseshell tomcats with XX/XY chimerism can be fertile.