Die embryonale Entwicklung. Entwicklungsphysiologie und experimentelle Teratologie

Lėhmann, Fritz

doi:10.1007/978-3-642-94649-3_1

Cited by 16 publications

(2 citation statements)

References 72 publications

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“…Teratologically, the malformations in our observation were chiefly limited to the "archiencephalic" organizer region of Lehmann ( 1955), i.e., the anterior part of the prechordal mesoderm. which is responsible for the formation of the prosencephalon, the diencephalon, the nose, the eyes, and the mandible.…”

Section: Discussionmentioning

confidence: 53%

Pseudoaprosencephaly: Aplasia of the Forebrain in a Median Facial Cleft Syndrome with Arhinia and Anophthalmia

Schmitt¹,

Born

1988

Congenital Anomalies

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Report of a female fetus aborted at the 25th week of gestation, with severe microcephalus, trigonocephaly, median cleft lip and palate, arhinia, and anophthalmia. On opening of the skull the cranial cavity seemed to be occupied only by hindbrain structures. The forebrain, including the tentorium cerebelli and the falx were absent. However, in the light microscope membraneous remnants of a collapsed forebrain vesicle were found. They were connected with the mid-brain brain and appeared as glio-mesenchymal membranes with an ependymal out-line at their inner surface. There was no cranioschisis. The formal relationship of this forebrain malformation to abobar dorsal sac holoprosencephaly, and its separation from hydranencephaly are discussed. In view of the gross absence of the telencephalon and the microscopic demonstration of remnants of a prosencephalic vesicle it is suggested to term this "missing link" in the classification of human CNS malformations pseudoaprosencephaly.

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Section: Discussionmentioning

confidence: 53%

Pseudoaprosencephaly: Aplasia of the Forebrain in a Median Facial Cleft Syndrome with Arhinia and Anophthalmia

Schmitt¹,

Born

1988

Congenital Anomalies

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“…The most severe brain and head changes resulted if the hypoxia was induced at the beginning of gastrulation, i.e., before the onset of neurulation, when oxygen consumption is known to be exceptionally high [25]. In these experiments, the underlying developmental mechanisms responsible for the malformations occurring with hypoxia were multiple including (1) disturbance of the migration of blastema (altered 'topogenesis' of the German Embryological School according to Lehmann [27,28] and 'integrated cell and tissue movements' according to Gilbert [19]), (2) decreased inductive capacity of the altered blastema, and (3) disturbance of further differentiation of the organ anlage [25]. These investigations that continued the Spemann-Mangold experiments on organizers [29] also used experimental animals and revealed that hypoxia must occur before the onset of the formation of the organ anlage to induce severe developmental deviation.…”

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confidence: 99%

EPAS 1, congenital heart disease, and high altitude: disclosures by genetics, bioinformatics, and experimental embryology

Sergi

2019

Bioscience Reports

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The high-altitude environment is a challenge for human settlement. Low oxygen concentrations, extreme cold, and a harsh arid climate are doubtlessly challenges for the colonization of the Tibetan plateau. I am delighted to comment on the article of Pan et al. (2018) on mutations in endothelial PAS domain-containing protein 1 (EPAS1) in congenital heart disease in Tibetans. In humans, the EPAS1 gene is responsible for coding EPAS1 protein, an alias of which is HIF2α, an acronym for hypoxia-inducible factor 2 alpha. EPAS1 is a type of hypoxia-inducible factors, which are collected as a group of transcription factors involved in body response to oxygen level. EPAS1 gene is active under hypoxic conditions and plays an essential role in the development of the heart and in the management of the catecholamine balance, mutations of which have been identified in neuroendocrine tumors. In this article, Pan et al. investigated Tibetan patients with and without non-syndromic congenital heart disease. They identified two novel EPAS1 gene mutations, of which N203H mutation significantly affected the transcription activity of the vascular endothelial growth factor (VEGF) promoter, particularly in situations of hypoxia. VEGF is a downstream target of HIF-2 (other than HIF-1), and the expression levels of either HIF-1α or HIF-2α correlate positively to VEGF expression. Pan et al.’s data may be of incitement to further evaluate protein–protein interaction and using experimental animal models. Moreover, it may also be a stimulus for setting up genetic epidemiologic studies for other populations living at high altitudes.

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The Ear in Severe Malformations of the Head: A Discussion of the Formal and Causal Genetic Factors Involved

Altmann¹

1957

Archives of Otolaryngology - Head and Neck Surgery

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Die embryonale Entwicklung. Entwicklungsphysiologie und experimentelle Teratologie

Cited by 16 publications

References 72 publications

Pseudoaprosencephaly: Aplasia of the Forebrain in a Median Facial Cleft Syndrome with Arhinia and Anophthalmia

Pseudoaprosencephaly: Aplasia of the Forebrain in a Median Facial Cleft Syndrome with Arhinia and Anophthalmia

EPAS 1, congenital heart disease, and high altitude: disclosures by genetics, bioinformatics, and experimental embryology

The Ear in Severe Malformations of the Head: A Discussion of the Formal and Causal Genetic Factors Involved

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