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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 Effect of lentivirus-mediated miR-182 targeting FGF9 on hallux valgus

4 citations , January 2021 in “International Journal of Medical Sciences”

miR-182 may help treat hallux valgus by targeting FGF9.

research Skin transcriptomic and selection signature analyses identify ASIP as a key gene in cattle coat color determination

2 citations , April 2025 in “Frontiers in Genetics”

The ASIP gene is crucial for determining cattle coat color.

research A rare LMNA missense mutation causing a severe phenotype of mandibuloacral dysplasia type A: a case report

2 citations , January 2024 in “Revista Paulista de Pediatria”

A rare genetic mutation caused severe symptoms in a 6-year-old girl with mandibuloacral dysplasia type A.

Genome Wide Association Analysis of Root Hair Traits in Rice Reveals Novel Genomic Regions Controlling Epidermal Cell Differentiation

research Genome wide association analysis of root hair traits in rice reveals novel genomic regions controlling epidermal cell differentiation

2 citations , January 2023 in “BMC plant biology”

Scientists found new genetic areas that affect how rice root hairs grow and develop.

research Decay of Skin-Specific Gene Modules in Pangolins

1 citations , May 2023 in “Journal of molecular evolution”

Pangolins have lost some skin-related genes, but kept others, leading to their unique scales and skin features.

research Convergent Decay of Skin-specific Gene Modules in Pangolins

1 citations , December 2022 in “bioRxiv (Cold Spring Harbor Laboratory)”

Pangolins have lost some skin-related genes, but kept others, showing complex skin evolution.

research Aldosterone- and cortisol-cosecreting adrenal adenoma, ovarian hyperthecosis and breast cancer

1 citations , September 2020 in “Endocrinology, Diabetes & Metabolism Case Reports”

The conclusion is that thorough investigation of hypertension and hormonal dysfunctions is important, and there may be a link between these conditions and cancer.

research Zebrafish Model of Hereditary Pigmentary Disorders

1 citations , October 2019 in “International Journal of Dermatology and Venereology”

Zebrafish help understand genetic causes of skin pigment disorders like albinism.

research Novel Androgen Receptor Gene Variant Containing a Premature Termination Codon in a Patient with Androgen Insensitivity Syndrome

1 citations , August 2019 in “Journal of pediatric & adolescent gynecology”

A new genetic change causing early stop in the androgen receptor gene was found in a patient with androgen insensitivity syndrome.

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