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research Study on the zona pellucida 4 (ZP4) gene sequence and its expression in the ovaries of patients with polycystic ovary syndrome

18 citations , March 2015 in “Journal of Endocrinological Investigation”

The research suggests that the ZP4 gene is linked to egg development in women with PCOS but requires more study to understand its role in infertility.

research MON-194 A Case Of Sertoli Cell Tumor In A Patient With Familial Partial Lipodystrophy Type 2

October 2025 in “Journal of the Endocrine Society”

A rare ovarian tumor was found in a young woman with a genetic fat disorder.

research Loss of Keratin K2 Expression Causes Aberrant Aggregation of K10, Hyperkeratosis, and Inflammation

32 citations , April 2014 in “The journal of investigative dermatology/Journal of investigative dermatology”

Loss of keratin K2 causes skin problems and inflammation.

research Deletion of hypoxia-inducible factor prolyl 4-hydroxylase 2 in FoxD1-lineage mesenchymal cells leads to congenital truncal alopecia

1 citations , March 2022 in “Journal of biological chemistry/The Journal of biological chemistry”

Removing a specific gene in certain skin cells causes hair loss in mice by disrupting hair follicle development.

research Exome-wide age-of-onset analysis reveals exonic variants in ERN1, TACR3 and SPPL2C associated with Alzheimer’s disease

January 2020 in “bioRxiv (Cold Spring Harbor Laboratory)”

Certain genetic variants in ERN1, TACR3, and SPPL2C are linked to when Alzheimer's disease starts.

Motoneuron-Specific PTEN Deletion in Mice Induces Neuronal Hypertrophy and Regeneration After Facial Nerve Injury

research Motoneuron-Specific PTEN Deletion in Mice Induces Neuronal Hypertrophy and Also Regeneration after Facial Nerve Injury

6 citations , February 2022 in “The journal of neuroscience/The Journal of neuroscience”

Deleting the PTEN gene in mice causes nerve cells to grow larger and heal better after injury, but may cause overgrowth and hair loss in older mice.

Metreleptin Treatment in a Boy with Congenital Generalized Lipodystrophy Due to Homozygous c.465_468delGACT (p.T156Rfs*8) Mutation in the BSCL2 Gene: Results From the First Year

research Metreleptin Treatment in a Boy with Congenital Generalized Lipodystrophy due to Homozygous c.465_468delGACT (p.T156Rfs*8) Mutation in the BSCL2 Gene: Results From the First-year

1 citations , June 2022 in “JCRPE”

Metreleptin treatment significantly improved metabolic health in a boy with congenital generalized lipodystrophy.

research High-throughput Sequencing to Identify Monogenic Etiologies in a Preselected Polycystic Ovary Syndrome Cohort

2 citations , July 2022 in “Journal of the Endocrine Society”

Some women with PCOS have rare genetic variants linked to the condition.

research Epidermal PPARγ Is a Key Homeostatic Regulator of Cutaneous Inflammation and Barrier Function in Mouse Skin

9 citations , August 2021 in “International journal of molecular sciences”

PPARγ is essential for maintaining healthy skin, controlling inflammation, and ensuring proper skin barrier function.

research Multiple roles for activated LEF/TCF transcription complexes during hair follicle development and differentiation

990 citations , October 1999 in “Development”

Activated LEF/TCF complexes are crucial for hair development and cycling.

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