Isabella Aprea

Muenster, NW, Germany

Last Updated: 09/26/2026

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Found 13 publications

HIPK4 is a novel gene associated with teratozoospermia and male infertility.

HIPK4 is a novel gene associated with teratozoospermia and male infertility.

Journal: Human reproduction open

Published: February 20, 2026

Primary Ciliary Dyskinesia Associated Disease-Causing Variants in CCDC39 and CCDC40 Cause Axonemal Absence of Inner Dynein Arm Heavy Chains DNAH1, DNAH6, and DNAH7.

Primary Ciliary Dyskinesia Associated Disease-Causing Variants in CCDC39 and CCDC40 Cause Axonemal Absence of Inner Dynein Arm Heavy Chains DNAH1, DNAH6, and DNAH7.

Journal: Cells

Published: April 30, 2024

A range of 30-62% of functioning multiciliated airway cells is sufficient to maintain ciliary airway clearance.

A range of 30-62% of functioning multiciliated airway cells is sufficient to maintain ciliary airway clearance.

Journal: The European respiratory journal

Published: August 25, 2023

Pathogenic gene variants in CCDC39, CCDC40, RSPH1, RSPH9, HYDIN, and SPEF2 cause defects of sperm flagella composition and male infertility.

Pathogenic gene variants in CCDC39, CCDC40, RSPH1, RSPH9, HYDIN, and SPEF2 cause defects of sperm flagella composition and male infertility.

Journal: Frontiers in genetics

Published: December 06, 2022

Pathogenic variants in CLXN encoding the outer dynein arm docking-associated calcium-binding protein calaxin cause primary ciliary dyskinesia.

Pathogenic variants in CLXN encoding the outer dynein arm docking-associated calcium-binding protein calaxin cause primary ciliary dyskinesia.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: October 20, 2022

Recessive Mutations in CFAP74 Cause Primary Ciliary Dyskinesia with Normal Ciliary Ultrastructure.

Recessive Mutations in CFAP74 Cause Primary Ciliary Dyskinesia with Normal Ciliary Ultrastructure.

Journal: American journal of respiratory cell and molecular biology

Published: September 01, 2022

Defects in the cytoplasmic assembly of axonemal dynein arms cause morphological abnormalities and dysmotility in sperm cells leading to male infertility.

Defects in the cytoplasmic assembly of axonemal dynein arms cause morphological abnormalities and dysmotility in sperm cells leading to male infertility.

Journal: PLoS genetics

Published: May 06, 2020

Motility of efferent duct cilia aids passage of sperm cells through the male reproductive system.

Motility of efferent duct cilia aids passage of sperm cells through the male reproductive system.

Journal: Molecular human reproduction

Published: April 28, 2020

CFAP45 deficiency causes situs abnormalities and asthenospermia by disrupting an axonemal adenine nucleotide homeostasis module.

CFAP45 deficiency causes situs abnormalities and asthenospermia by disrupting an axonemal adenine nucleotide homeostasis module.

Journal: Nature communications

Published: November 03, 2019

De Novo Mutations in FOXJ1 Result in a Motile Ciliopathy with Hydrocephalus and Randomization of Left/Right Body Asymmetry.

De Novo Mutations in FOXJ1 Result in a Motile Ciliopathy with Hydrocephalus and Randomization of Left/Right Body Asymmetry.

Journal: American journal of human genetics

Published: April 05, 2019

Homozygous loss-of-function mutations in MNS1 cause laterality defects and likely male infertility.

Homozygous loss-of-function mutations in MNS1 cause laterality defects and likely male infertility.

Journal: PLoS genetics

Published: March 23, 2018

Mutations in C11orf70 Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry Due to Defects of Outer and Inner Dynein Arms.

Mutations in C11orf70 Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry Due to Defects of Outer and Inner Dynein Arms.

Journal: American journal of human genetics

Published: October 27, 2017

Showing 1-12 of 13

Last Updated: 09/26/2026