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A new mutation linked to partial Androgen Insensitivity Syndrome and prostate cancer was found in a patient unhappy with their female gender assignment.

The L457(3.43)R mutation in the human lutropin receptor causes increased activity and hormone insensitivity, leading to precocious puberty.

A new mutation in the ST14 gene broadens the understanding of ichthyosis-hypotrichosis syndrome.

The scant hair in snthr-1Bao mice is likely caused by a deletion affecting the Plcd1 gene.

A specific gene mutation causes vitamin D resistance, but certain vitamin D analogs might help.

A specific gene variant may increase the risk of developing Alopecia Areata.

A new mutation in the CYP11B1 gene was found in a woman with mild hyperandrogenemia, a rare cause of non-classic congenital adrenal hyperplasia.

New and known mutations in the hairless gene cause a hair loss condition called Atrichia with papular lesions.

A new genetic variant causes trichothiodystrophy in two brothers, but their mother may carry it without showing symptoms.

A new gene mutation causes insulin resistance in a girl and her mother.

A new genetic mutation in the TRPV3 gene causes Olmsted-like syndrome in a Mongolian family.

Defective protein folding due to a mutation is key in ANE syndrome.

ODC1 gene mutations cause a neurodevelopmental disorder with large head size, hair loss, and facial abnormalities.

African American men with prostate cancer have more androgen receptor mutations, which may lead to more aggressive cancer compared to Caucasian American men.

The rs231775 genetic variant is linked to a higher risk and severity of Alopecia Areata in males.

The study found two new mutations in a Chinese patient with severe biotinidase deficiency.

A new mouse mutation causes skin and hair defects due to a gene change.

A mutation in the vitamin D receptor causes severe resistance to vitamin D, affecting bone health but not hair growth.

The LMNA mutation affects skin structure even in asymptomatic carriers.

A patient with a rare disease had a unique genetic mutation linked to their symptoms.

A mutation in the hHb3 gene is linked to the hair disorder monilethrix.

The Thr1022Ala variant in the hairless gene is not a disease-causing mutation.

A specific gene mutation causes long hair in Angora rabbits.

A new mutation in the FLCN gene linked to Birt-Hogg-Dube syndrome was found, suggesting people with certain lung collapse should be tested for this mutation and screened for kidney and colon cancer.

Researchers found a new mutation in the LIPH gene of a woman with a rare hair condition.

The EDAR V370A allele in East Asians likely evolved due to reliance on aquatic resources providing essential nutrients.

The EDAR V370A allele in East Asians likely evolved due to reliance on aquatic resources providing essential nutrients.

A girl with excessive hair growth had a genetic change on chromosome 17 that reduced the activity of two genes linked to hair growth.

E211 G>A gene linked to lower risk of severe prostate cancer and hair loss.

A new DSG4 gene mutation causes hair defects in a young girl.