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A Novel Nonsense Mutation in the STS Gene in a Pakistani Family with X-Linked Recessive Ichthyosis: Including a Very Rare Case of Two Homozygous Female Patients

research A novel nonsense mutation in the STS gene in a Pakistani family with X-linked recessive ichthyosis: including a very rare case of two homozygous female patients

6 citations , January 2020 in “BMC Medical Genetics”

A new mutation in the STS gene causes X-linked ichthyosis, even in rare female cases.

research Genetic Mapping Of Hereditary Ectodermal Dysplasias And Hair Loss Genes

January 2011

Genetic mutations linked to ectodermal dysplasias and hair loss were identified in Pakistani families.

Sulphation Catalyzed by the Human Cytosolic Sulphotransferases: Chemical Defense or Molecular Terrorism?

research Sulphation catalysed by the human cytosolic sulphotransferases - chemical defence or molecular terrorism?

48 citations , July 1996 in “Human & Experimental Toxicology”

Human enzymes can detoxify harmful substances but might also increase their cancer risk.

research Steroid Sulfatase Deficiency and Androgen Activation Before and After Puberty

41 citations , March 2016 in “The Journal of Clinical Endocrinology & Metabolism”

In STSD patients, the body compensates for low androgen levels by increasing another enzyme's activity.

research Roles of steroid sulfatase in brain and other tissues

22 citations , January 2008 in “Physiological Research”

Steroid sulfatase is important for activating hormones that affect memory, brain function, and certain diseases, and could be a target for treating hormone-related disorders.

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Hair System Specialist
Jane Genesi
Marlton, PA, United States

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Jane Genesi